References
References - curated
Region Position Markers
QTLs in Region (GRCh38)
RGD ID | Symbol | Name | LOD | P Value | Trait | Sub Trait | Chr | Start | Stop | Species | 407085376 | GWAS734352_H | esterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS734352 (human) | 5e-10 | esterified cholesterol measurement, high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407391371 | GWAS1040347_H | aspartate aminotransferase measurement QTL GWAS1040347 (human) | 1e-23 | aspartate aminotransferase measurement | blood aspartate aminotransferase activity level (CMO:0000580) | 6 | 43789345 | 43789346 | Human | 407410571 | GWAS1059547_H | triglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS1059547 (human) | 1e-08 | triglyceride measurement, high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407090565 | GWAS739541_H | free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS739541 (human) | 8e-14 | free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407075151 | GWAS724127_H | cholesterol to total lipids in very large VLDL percentage QTL GWAS724127 (human) | 3e-10 | cholesterol to total lipids in very large VLDL percentage | 6 | 43789345 | 43789346 | Human | 407409157 | GWAS1058133_H | gluteofemoral adipose tissue measurement QTL GWAS1058133 (human) | 6e-15 | gluteofemoral adipose tissue measurement | 6 | 43789345 | 43789346 | Human | 407089682 | GWAS738658_H | serum alanine aminotransferase measurement QTL GWAS738658 (human) | 4e-14 | serum alanine aminotransferase measurement | serum alanine aminotransferase activity level (CMO:0000575) | 6 | 43789345 | 43789346 | Human | 407079761 | GWAS728737_H | phospholipids in large HDL measurement QTL GWAS728737 (human) | 5e-18 | phospholipids in large HDL measurement | blood high density lipoprotein phospholipid level (CMO:0001565) | 6 | 43789345 | 43789346 | Human | 407410202 | GWAS1059178_H | serum alanine aminotransferase measurement QTL GWAS1059178 (human) | 5e-08 | serum alanine aminotransferase measurement | serum alanine aminotransferase activity level (CMO:0000575) | 6 | 43789345 | 43789346 | Human | 407388315 | GWAS1037291_H | myeloid white cell count QTL GWAS1037291 (human) | 7e-09 | myeloid white cell count | white blood cell count (CMO:0000027) | 6 | 43789345 | 43789346 | Human | 407090582 | GWAS739558_H | myocardial infarction QTL GWAS739558 (human) | 0.000001 | myocardial infarction | 6 | 43789345 | 43789346 | Human | 407091221 | GWAS740197_H | total lipids in large HDL QTL GWAS740197 (human) | 4e-19 | total lipids in large HDL | 6 | 43789345 | 43789346 | Human | 407388958 | GWAS1037934_H | reticulocyte count QTL GWAS1037934 (human) | 7e-11 | reticulocyte count | total reticulocyte count (CMO:0003020) | 6 | 43789345 | 43789346 | Human | 407088667 | GWAS737643_H | total cholesterol change measurement, high density lipoprotein cholesterol measurement QTL GWAS737643 (human) | 2e-19 | total cholesterol change measurement, high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407084378 | GWAS733354_H | phospholipids:total lipids ratio QTL GWAS733354 (human) | 5e-11 | reticulocyte count | total reticulocyte count (CMO:0003020) | 6 | 43789345 | 43789346 | Human | 407079129 | GWAS728105_H | high density lipoprotein cholesterol measurement QTL GWAS728105 (human) | 7e-19 | high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407253340 | GWAS902316_H | myocardial infarction QTL GWAS902316 (human) | 0.0000005 | myocardial infarction | 6 | 43789345 | 43789346 | Human | 407396563 | GWAS1045539_H | non-alcoholic fatty liver disease QTL GWAS1045539 (human) | 1e-21 | non-alcoholic fatty liver disease | 6 | 43789345 | 43789346 | Human | 1358857 | MULTSCL19_H | Multiple sclerosis susceptibility QTL 19 (human) | Multiple sclerosis susceptibility | 6 | 19584311 | 45584311 | Human | 407090589 | GWAS739565_H | cholesterol esters in large HDL measurement QTL GWAS739565 (human) | 3e-19 | cholesterol esters in large HDL measurement | 6 | 43789345 | 43789346 | Human | 407414935 | GWAS1063911_H | type 2 diabetes mellitus QTL GWAS1063911 (human) | 1e-12 | type 2 diabetes mellitus | 6 | 43789345 | 43789346 | Human | 407026400 | GWAS675376_H | cholesterol to total lipids in large HDL percentage QTL GWAS675376 (human) | 1e-18 | cholesterol to total lipids in large HDL percentage | 6 | 43789345 | 43789346 | Human | 1358839 | MULTSCL5_H | Multiple sclerosis susceptibility QTL 5 (human) | Multiple sclerosis susceptibility | 6 | 19584311 | 45584311 | Human | 407383019 | GWAS1031995_H | reticulocyte measurement QTL GWAS1031995 (human) | 4e-22 | reticulocyte morphology trait (VT:0002424) | red blood cell measurement (CMO:0001356) | 6 | 43789345 | 43789346 | Human | 407407788 | GWAS1056764_H | serum alanine aminotransferase measurement QTL GWAS1056764 (human) | 3e-16 | serum alanine aminotransferase measurement | serum alanine aminotransferase activity level (CMO:0000575) | 6 | 43789345 | 43789346 | Human | 407133602 | GWAS782578_H | free cholesterol in very large HDL measurement QTL GWAS782578 (human) | 5e-12 | free cholesterol in very large HDL measurement | 6 | 43789345 | 43789346 | Human | 407378862 | GWAS1027838_H | heel bone mineral density QTL GWAS1027838 (human) | 7e-12 | heel bone mineral density | bone mineral density (CMO:0001226) | 6 | 43789345 | 43789346 | Human | 407135852 | GWAS784828_H | high density lipoprotein cholesterol measurement QTL GWAS784828 (human) | 3e-15 | high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407024744 | GWAS673720_H | cholesteryl esters to total lipids in large HDL percentage QTL GWAS673720 (human) | 1e-17 | cholesteryl esters to total lipids in large HDL percentage | 6 | 43789345 | 43789346 | Human | 407392354 | GWAS1041330_H | high density lipoprotein cholesterol measurement QTL GWAS1041330 (human) | 4e-08 | high density lipoprotein cholesterol measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407409445 | GWAS1058421_H | gluteofemoral adipose tissue measurement QTL GWAS1058421 (human) | 1e-09 | gluteofemoral adipose tissue measurement | 6 | 43789345 | 43789346 | Human | 407089325 | GWAS738301_H | triglyceride measurement QTL GWAS738301 (human) | 8e-18 | serum alanine aminotransferase measurement | serum alanine aminotransferase activity level (CMO:0000575) | 6 | 43789345 | 43789346 | Human | 407219191 | GWAS868167_H | reticulocyte measurement QTL GWAS868167 (human) | 4e-21 | reticulocyte morphology trait (VT:0002424) | red blood cell measurement (CMO:0001356) | 6 | 43789345 | 43789346 | Human | 407046839 | GWAS695815_H | triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS695815 (human) | 2e-10 | triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement | blood very low density lipoprotein cholesterol level (CMO:0000648) | 6 | 43789345 | 43789346 | Human | 407137020 | GWAS785996_H | total lipids in very large HDL measurement QTL GWAS785996 (human) | 7e-15 | total lipids in very large HDL measurement | 6 | 43789345 | 43789346 | Human | 407090681 | GWAS739657_H | free cholesterol in large HDL measurement QTL GWAS739657 (human) | 1e-19 | free cholesterol in large HDL measurement | blood high density lipoprotein cholesterol level (CMO:0000052) | 6 | 43789345 | 43789346 | Human | 407392311 | GWAS1041287_H | serum alanine aminotransferase measurement QTL GWAS1041287 (human) | 3e-28 | serum alanine aminotransferase measurement | serum alanine aminotransferase activity level (CMO:0000575) | 6 | 43789345 | 43789346 | Human | |
Additional Information
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog | ||
The highlighted row represents the current QTL |
QTL | GWAS Catalog Study | Disease Trait | Study Size | Risk Allele | Risk Allele Frequency | P Value | P Value MLOG | Peak Marker | Reported Odds Ratio or Beta-coefficient | Ontology Accession | PubMed |
GWAS673720_H | GCST90269733 | Cholesteryl esters to total lipids in large HDL percentage (UKB data field 23636) | 88,329 European ancestry individuals | A | 0.499858 | 1E-17 | 17 | rs4711750 | 0.038868 | cholesteryl esters to total lipids in large HDL percentage (EFO:0022248) |
PMID:36764567 |
GWAS675376_H | GCST90269732 | Cholesterol to total lipids in large HDL percentage (UKB data field 23635) | 88,329 European ancestry individuals | A | 0.499858 | 1E-18 | 18 | rs4711750 | 0.0394902 | cholesterol to total lipids in large HDL percentage (EFO:0022234) |
PMID:36764567 |
GWAS695815_H | GCST90302115 | Triglycerides to total lipids ratio in small VLDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5064 | 2E-10 | 9.699 | rs4711750 | 0.0255 | triglycerides:total lipids ratio (EFO:0020947) very low density lipoprotein cholesterol measurement (EFO:0008317) |
PMID:38448586 |
GWAS724127_H | GCST90269682 | Cholesterol to total lipids in very large VLDL percentage (UKB data field 23585) | 87,620 European ancestry individuals | A | 0.499852 | 3E-10 | 9.523 | rs4711750 | 0.0285365 | cholesterol to total lipids in very large VLDL percentage (EFO:0022244) |
PMID:36764567 |
GWAS728105_H | GCST90302002 | Concentration of large HDL particles | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 7E-19 | 18.155 | rs4711750 | 0.0364 | high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:38448586 |
GWAS728737_H | GCST90302003 | Phospholipids in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 5E-18 | 17.302 | rs4711750 | 0.0354 | phospholipids in large HDL measurement (EFO:0022190) |
PMID:38448586 |
GWAS733354_H | GCST90269731 | Phospholipids to total lipids in large HDL percentage (UKB data field 23634) | 88,329 European ancestry individuals | A | 0.499858 | 5E-11 | 10.302 | rs4711750 | 0.0302068 | phospholipids:total lipids ratio (EFO:0020946) |
PMID:36764567 |
GWAS734352_H | GCST90302032 | Total cholesterol to total lipids ratio in medium HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5074 | 5E-10 | 9.302 | rs4711750 | 0.0254 | esterified cholesterol measurement (EFO:0008589) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:38448586 |
GWAS737643_H | GCST90301995 | Total cholesterol in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 2E-19 | 18.699 | rs4711750 | 0.0366 | total cholesterol change measurement (EFO:0007806) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:38448586 |
GWAS738301_H | GCST011345 | Triglyceride levels | 76,081 European ancestry individuals, 127,395 Japanese ancestry individuals | ? | NR | 8E-18 | 17.097 | rs4711750 | 0.0334 | triglyceride measurement (EFO:0004530) |
PMID:33339817 |
GWAS738658_H | GCST90011898 | Alanine aminotransferase levels | 390,812 European ancestry individuals | A | 0.5 | 4E-14 | 13.398 | rs4711750 | 7.58 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:33547301 |
GWAS739541_H | GCST90302000 | Free cholesterol to total lipids ratio in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5066 | 8E-14 | 13.097 | rs4711750 | 0.0306 | free cholesterol:total lipids ratio (EFO:0020945) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:38448586 |
GWAS739558_H | GCST011365 | Myocardial infarction | 14,825 European ancestry cases, 44,000 European and unknown ancestry cases, 2,680 cases, 380,970 European ancestry controls, 123,504 European and unknown ancestry controls, 73,242 controls | A | 0.499289 | 0.000001 | 6 | rs4711750 | 1.04 | myocardial infarction (EFO:0000612) |
PMID:33532862 |
GWAS739565_H | GCST90301997 | Cholesterol esters in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 3E-19 | 18.523 | rs4711750 | 0.0364 | cholesterol esters in large HDL measurement (EFO:0022159) |
PMID:38448586 |
GWAS739657_H | GCST90301999 | Free cholesterol in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 1E-19 | 19 | rs4711750 | 0.0371 | free cholesterol in large HDL measurement (EFO:0022157) |
PMID:38448586 |
GWAS740197_H | GCST90302001 | Total lipids in large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5079 | 4E-19 | 18.398 | rs4711750 | 0.0366 | total lipids in large HDL (EFO:0022189) |
PMID:38448586 |
GWAS782578_H | GCST90302130 | Free cholesterol in very large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5082 | 5E-12 | 11.302 | rs4711750 | 0.0284 | free cholesterol in very large HDL measurement (EFO:0022273) |
PMID:38448586 |
GWAS784828_H | GCST90302133 | Concentration of very large HDL particles | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5082 | 3E-15 | 14.523 | rs4711750 | 0.0325 | high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:38448586 |
GWAS785996_H | GCST90302132 | Total lipids in very large HDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.5082 | 7E-15 | 14.155 | rs4711750 | 0.0321 | total lipids in very large HDL measurement (EFO:0022312) |
PMID:38448586 |
GWAS868167_H | GCST90002406 | Reticulocyte fraction of red cells | 408,112 British individuals | A | 0.500226 | 4E-21 | 20.398 | rs4711750 | 0.02093351 | reticulocyte measurement (EFO:0010700) |
PMID:32888494 |
GWAS902316_H | GCST90432175 | Myocardial infarction | 3,950 Saudi Arabian ancestry cases, 2,324 Saudi Arabian ancestry controls, 56,278 European and unknown ancestry cases, 577,716 European and unknown ancestry controls | ? | NR | 5E-7 | 6.302 | rs4711750 | 0.962 | myocardial infarction (EFO:0000612) |
PMID:38072966 |
None Available | GCST90428729 | Alanine aminotransferase levels | 1,010,710 European ancestry individuals | A | NR | 8E-18 | 17.097 | rs4711750 | 0.0033 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:38632349 |
None Available | GCST004612 | High light scatter reticulocyte percentage of red cells | 170,763 European ancestry individuals | A | 0.4997 | 5E-11 | 10.302 | rs4711750 | 0.02342795 | reticulocyte count (EFO:0007986) |
PMID:27863252 |
GWAS1027838_H | GCST006979 | Heel bone mineral density | 426,824 British ancestry individuals | T | 0.49938 | 7E-12 | 11.155 | rs4711750 | 0.012546 | heel bone mineral density (EFO:0009270) |
PMID:30598549 |
None Available | GCST90444202 | Type 2 diabetes | 51,256 African, African American, East Asian, South Asian, European, Middle Eastern, admixed American, other or other admixed ancestry cases, 370,487 African, African American, East Asian, South Asian, European, Middle Eastern, admixed American, other or other admixed ancestry controls | T | 0.510823 | 2E-19 | 18.699 | rs4711750 | 0.0721 | PMID:39379762 | |
GWAS1031995_H | GCST90002386 | High light scatter reticulocyte percentage of red cells | 408,112 British individuals | A | 0.500197 | 4E-22 | 21.398 | rs4711750 | 0.021331951 | reticulocyte measurement (EFO:0010700) |
PMID:32888494 |
GWAS1037291_H | GCST004626 | Myeloid white cell count | 169,219 European ancestry individuals | A | 0.5001 | 7E-9 | 8.155 | rs4711750 | 0.02079017 | myeloid white cell count (EFO:0007988) |
PMID:27863252 |
GWAS1037934_H | GCST004619 | Reticulocyte fraction of red cells | 170,690 European ancestry individuals | A | 0.4998 | 7E-11 | 10.155 | rs4711750 | 0.0233458 | reticulocyte count (EFO:0007986) |
PMID:27863252 |
GWAS1040347_H | GCST90013664 | Aspartate aminotransferase levels | 386,570 British ancestry individuals, 10,617 Asian or Asian British individuals, 7,426 Black or Black British individuals, 2,321 Chinese ancestry individuals | ? | NR | 1E-23 | 23 | rs4711750 | 0.0023 | aspartate aminotransferase measurement (EFO:0004736) |
PMID:34315874 |
GWAS1041287_H | GCST90013663 | Alanine aminotransferase levels | 387,859 British ancestry individuals, 10,635 Asian or Asian British individuals, 7,468 Black or Black British individuals, 2,338 Chinese ancestry individuals | ? | NR | 3E-28 | 27.523 | rs4711750 | 0.0043 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:34315874 |
GWAS1041330_H | GCST90239650 | High density lipoprotein cholesterol levels | 99,432 Admixed African or African ancestry individuals | A | 0.192128 | 4E-8 | 7.398 | rs4711750 | 0.0338458 | high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:34887591 |
GWAS1045539_H | GCST90094908 | Nonalcoholic fatty liver disease (imputed) | 28,396 European ancestry cases, 108,652 European ancestry controls | ? | NR | 1E-21 | 21 | rs4711750 | 0.00869145 | non-alcoholic fatty liver disease (EFO:0003095) |
PMID:35047847 |
GWAS1056764_H | GCST90013405 | Liver enzyme levels (alanine transaminase) | 437,267 European ancestry individuals | T | 0.499922 | 3E-16 | 15.523 | rs4711750 | 0.00322879 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:33972514 |
GWAS1058133_H | GCST90205202 | Gluteofemoral adipose tissue volumes | 38,965 European ancestry, East Asian ancestry, South Asian ancestry, African ancestry, NR ancestry individuals | T | 0.5 | 6E-15 | 14.222 | rs4711750 | 0.054 | gluteofemoral adipose tissue measurement (EFO:0803317) |
PMID:35773277 |
GWAS1058421_H | GCST90205220 | Gluteofemoral adipose tissue volumes | 19,093 European ancestry, East Asian ancestry, South Asian ancestry, African ancestry, NR ancestry females | T | 0.5 | 1E-9 | 9 | rs4711750 | 0.06 | gluteofemoral adipose tissue measurement (EFO:0803317) |
PMID:35773277 |
GWAS1059178_H | GCST90129601 | Chronic elevation of alanine aminotransferase (cALT) levels | 95,472 European ancestry cases, 68,725 European ancestry controls, 23,977 African American cases, 13,387 African American controls, 7,650 Hispanic cases, 7,468 Hispanic controls, 1,088 Asian ancestry cases, 828 Asian ancestry controls | A | 0.465 | 5E-8 | 7.302 | rs4711750 | 0.037 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:35654975 |
GWAS1059547_H | GCST90092902 | Triglyceride levels in medium HDL | 115,082 European ancestry individuals | T | 0.500217 | 1E-8 | 8 | rs4711750 | 0.0231606 | triglyceride measurement (EFO:0004530) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:35213538 |
GWAS1063911_H | GCST90018926 | Type 2 diabetes | 38,841 European ancestry cases, 451,248 European ancestry controls, 45,383 East Asian ancestry cases, 132,032 East Asian ancestry controls | A | NR | 1E-12 | 12 | rs4711750 | 0.0448 | PMID:34594039 |
RGD Curation Notes
Note Type | Note | Reference |
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