GWAS683776_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS683776_H (free cholesterol in medium LDL measurement QTL GWAS683776 (human)) Homo sapiens

Symbol: GWAS683776_H
Name: free cholesterol in medium LDL measurement QTL GWAS683776 (human)
RGD ID: 407034800
Trait: esterified cholesterol measurement
LOD Score: Not Available
P Value: 2.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381234,722,850 - 234,722,851RGD_MAPPER_PIPELINEGRCh38
GRCh371234,858,597 - 234,858,598RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Position Markers

Peak: (rs514230)
Human AssemblyChrPosition (strand)Source
GRCh381234,722,850 - 234,722,851RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407143942GWAS792918_Hsphingomyelin measurement QTL GWAS792918 (human)2e-15sphingomyelin measurement1234722850234722851Human
407033222GWAS682198_Hfree cholesterol in LDL measurement QTL GWAS682198 (human)5e-12free cholesterol in LDL measurement 1234722850234722851Human
407120899GWAS769875_Hcholine measurement QTL GWAS769875 (human)9e-11choline measurement1234722850234722851Human
407056010GWAS704986_Hlow density lipoprotein cholesterol measurement QTL GWAS704986 (human)1e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407407704GWAS1056680_Hlow density lipoprotein cholesterol measurement QTL GWAS1056680 (human)1e-74low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407039313GWAS688289_Hcholesterol in medium LDL measurement QTL GWAS688289 (human)5e-11cholesterol in medium LDL measurement 1234722850234722851Human
407032017GWAS680993_Hlow density lipoprotein cholesterol measurement QTL GWAS680993 (human)3e-11blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407390736GWAS1039712_Halkaline phosphatase measurement QTL GWAS1039712 (human)2e-09alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1234722850234722851Human
407290652GWAS939628_Htotal cholesterol measurement QTL GWAS939628 (human)9e-18total cholesterol measurementblood total cholesterol level (CMO:0000051)1234722850234722851Human
407030814GWAS679790_Hcholesteryl ester measurement QTL GWAS679790 (human)3e-12blood lipid amount (VT:0003949)1234722850234722851Human
407290651GWAS939627_Htotal cholesterol measurement QTL GWAS939627 (human)2e-16bilirubin measurementserum total bilirubin level (CMO:0000376)1234722850234722851Human
407029728GWAS678704_Hlow density lipoprotein cholesterol measurement QTL GWAS678704 (human)2e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
406920034GWAS569010_Hlow density lipoprotein cholesterol measurement QTL GWAS569010 (human)9e-12low density lipoprotein cholesterol measurementblood total cholesterol level (CMO:0000051)1234722850234722851Human
407038881GWAS687857_Htotal lipids in LDL measurement QTL GWAS687857 (human)6e-12total lipids in LDL measurement 1234722850234722851Human
407390432GWAS1039408_Hapolipoprotein B measurement QTL GWAS1039408 (human)4e-68apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1234722850234722851Human
407393504GWAS1042480_Hapolipoprotein A 1 measurement QTL GWAS1042480 (human)1e-19apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)1234722850234722851Human
407404708GWAS1053684_Htotal cholesterol measurement QTL GWAS1053684 (human)5e-84total cholesterol measurementblood total cholesterol level (CMO:0000051)1234722850234722851Human
406919660GWAS568636_Htotal cholesterol measurement QTL GWAS568636 (human)5e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)1234722850234722851Human
407406438GWAS1055414_Hurate measurement QTL GWAS1055414 (human)7e-10urate measurementblood uric acid level (CMO:0000501)1234722850234722851Human
407411110GWAS1060086_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1060086 (human)1e-09cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407038957GWAS687933_Hcholesteryl ester measurement QTL GWAS687933 (human)1e-12blood lipid amount (VT:0003949)1234722850234722851Human
407277559GWAS926535_Hlow density lipoprotein cholesterol measurement QTL GWAS926535 (human)2e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407034800GWAS683776_Hfree cholesterol in medium LDL measurement QTL GWAS683776 (human)2e-11free cholesterol in medium LDL measurement 1234722850234722851Human
407041268GWAS690244_Htotal lipids in large LDL QTL GWAS690244 (human)4e-12total lipids in large LDL1234722850234722851Human
407038197GWAS687173_Hphospholipids in LDL measurement QTL GWAS687173 (human)6e-11phospholipids in LDL measurement 1234722850234722851Human
407407231GWAS1056207_HIGF-1 measurement QTL GWAS1056207 (human)3e-22IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)1234722850234722851Human
407038522GWAS687498_Hsphingomyelin measurement QTL GWAS687498 (human)4e-10phospholipids in medium LDL measurementblood low density lipoprotein phospholipid level (CMO:0001568)1234722850234722851Human
407277566GWAS926542_Hlow density lipoprotein cholesterol measurement QTL GWAS926542 (human)9e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407066937GWAS715913_Hlow density lipoprotein cholesterol measurement QTL GWAS715913 (human)9e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1234722850234722851Human
407040894GWAS689870_Hlow density lipoprotein cholesterol measurement QTL GWAS689870 (human)1e-10phospholipids in large LDL measurementblood low density lipoprotein phospholipid level (CMO:0001568)1234722850234722851Human
407413046GWAS1062022_Hdiet measurement QTL GWAS1062022 (human)1e-08diet measurementfood intake measurement (CMO:0000772)1234722850234722851Human
407402358GWAS1051334_Hhigh density lipoprotein cholesterol measurement QTL GWAS1051334 (human)4e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1234722850234722851Human


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
GWAS568636_H GCST000760 Cholesterol, total 100,184 European ancestry individuals A 0.48 5E-14 13.302 rs514230 1.36 total cholesterol measurement (EFO:0004574)
 PMID:20686565
GWAS569010_H GCST000759 LDL cholesterol 95,454 European ancestry individuals A 0.48 9E-12 11.046 rs514230 1.13 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:20686565
GWAS678704_H GCST90269502 LDL cholesterol levels (UKB data field 23405) 88,329 European ancestry individuals A 0.482395 2E-12 11.699 rs514230 0.0332647 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36764567
GWAS679790_H GCST90269514 Cholesteryl esters in LDL (UKB data field 23417) 88,329 European ancestry individuals A 0.482395 3E-12 11.523 rs514230 0.0331153 cholesteryl ester measurement (EFO:0010351)
 PMID:36764567
GWAS680993_H GCST90269501 Clinical LDL cholesterol levels (UKB data field 23404) 88,329 European ancestry individuals A 0.482395 3E-11 10.523 rs514230 0.0313585 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36764567
GWAS682198_H GCST90269518 Free cholesterol in LDL (UKB data field 23421) 88,329 European ancestry individuals A 0.482395 5E-12 11.302 rs514230 0.0324441 free cholesterol in LDL measurement (EFO:0022266)
 PMID:36764567
GWAS683776_H GCST90269639 Free cholesterol in medium LDL (UKB data field 23542) 88,329 European ancestry individuals A 0.482395 2E-11 10.699 rs514230 0.0318534 free cholesterol in medium LDL measurement (EFO:0022268)
 PMID:36764567
None Available GCST90269512 Total esterified cholesterol levels (UKB data field 23415) 88,329 European ancestry individuals A 0.482395 2E-11 10.699 rs514230 0.0308825 esterified cholesterol measurement (EFO:0008589)
 PMID:36764567
None Available GCST90269497 Total cholesterol levels (UKB data field 23400) 88,329 European ancestry individuals A 0.482395 9E-12 11.046 rs514230 0.0314281 total cholesterol measurement (EFO:0004574)
 PMID:36764567
None Available GCST90269644 Cholesterol in small LDL (UKB data field 23547) 88,329 European ancestry individuals A 0.482395 2E-11 10.699 rs514230 0.0320228 cholesterol in small LDL measurement (EFO:0022227)
 PMID:36764567
GWAS687173_H GCST90269510 Phospholipids in LDL (UKB data field 23413) 88,329 European ancestry individuals A 0.482395 6E-11 10.222 rs514230 0.0310592 phospholipids in LDL measurement (EFO:0022294)
 PMID:36764567
GWAS687498_H GCST90269535 Sphingomyelins levels (UKB data field 23438) 88,268 European ancestry individuals A 0.482395 4E-10 9.398 rs514230 0.0277944 sphingomyelin measurement (EFO:0010118)
 PMID:36764567
None Available GCST90269632 Free cholesterol in large LDL (UKB data field 23535) 88,329 European ancestry individuals A 0.482395 5E-12 11.302 rs514230 0.0323342 free cholesterol in large LDL measurement (EFO:0022176)
 PMID:36764567
GWAS687857_H GCST90269522 Total lipids in LDL (UKB data field 23425) 88,329 European ancestry individuals A 0.482395 6E-12 11.222 rs514230 0.0325908 total lipids in LDL measurement (EFO:0022308)
 PMID:36764567
GWAS687933_H GCST90269631 Cholesteryl esters in large LDL (UKB data field 23534) 88,329 European ancestry individuals A 0.482395 1E-12 12 rs514230 0.0335955 cholesteryl ester measurement (EFO:0010351)
 PMID:36764567
None Available GCST90269630 Cholesterol in large LDL (UKB data field 23533) 88,329 European ancestry individuals A 0.482395 1E-12 12 rs514230 0.0334759 cholesterol in large LDL measurement (EFO:0021901)
 PMID:36764567
GWAS688289_H GCST90269637 Cholesterol in medium LDL (UKB data field 23540) 88,329 European ancestry individuals A 0.482395 5E-11 10.302 rs514230 0.0312943 cholesterol in medium LDL measurement (EFO:0022224)
 PMID:36764567
None Available GCST90269636 Phospholipids in medium LDL (UKB data field 23539) 88,329 European ancestry individuals A 0.482395 4E-10 9.398 rs514230 0.0298177 phospholipids in medium LDL measurement (EFO:0022183)
 PMID:36764567
GWAS689870_H GCST90269634 Concentration of medium LDL particles (UKB data field 23537) 88,329 European ancestry individuals A 0.482395 1E-10 10 rs514230 0.0307968 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36764567
GWAS690244_H GCST90269628 Total lipids in large LDL (UKB data field 23531) 88,329 European ancestry individuals A 0.482395 4E-12 11.398 rs514230 0.0327246 total lipids in large LDL (EFO:0022163)
 PMID:36764567
None Available GCST90269603 Cholesteryl esters in medium VLDL (UKB data field 23506) 88,329 European ancestry individuals A 0.482395 3E-11 10.523 rs514230 0.0313573 cholesteryl ester measurement (EFO:0010351)
 PMID:36764567
None Available GCST90269635 Total lipids in medium LDL (UKB data field 23538) 88,329 European ancestry individuals A 0.482395 1E-10 10 rs514230 0.0307837 total lipids in medium LDL (EFO:0022180)
 PMID:36764567
None Available GCST90269629 Phospholipids in large LDL (UKB data field 23532) 88,329 European ancestry individuals A 0.482395 1E-10 10 rs514230 0.0304669 phospholipids in large LDL measurement (EFO:0022174)
 PMID:36764567
GWAS704986_H GCST002898 LDL cholesterol up 62,166 European ancestry individuals T 0.54 1E-11 11 rs514230 0.041 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:25961943
GWAS715913_H GCST008676 LDL cholesterol levels up to 23,353 African ancestry individuals, 13,171 Asian ancestry individuals, up to 82,522 European ancestry individuals, 6,646 Hispanic individuals A 0.4715 9E-10 9.046 rs514230 1.1444 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:30926973
GWAS769875_H GCST90302069 Phosphatidylcholine and other choline levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.454 9E-11 10.046 rs514230 0.0264 choline measurement (EFO:0010116)
 PMID:38448586
GWAS792918_H GCST90302103 Sphingomyelins levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 110,896 European ancestry individuals A 0.4516 2E-15 14.699 rs514230 0.0335 sphingomyelin measurement (EFO:0010118)
 PMID:38448586
None Available GCST002221 Cholesterol, total 94,595 European ancestry individuals A 0.48 5E-14 13.302 rs514230 0.039 total cholesterol measurement (EFO:0004574)
 PMID:24097068
None Available GCST002222 LDL cholesterol 94,595 European ancestry individuals A 0.48 9E-12 11.046 rs514230 0.036 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:24097068
GWAS926535_H GCST007141 Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals A NR 2E-14 13.699 rs514230 0.033 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:29507422
GWAS926542_H GCST007141 Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals A 0.476 9E-13 12.046 rs514230 0.034 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:29507422
GWAS939627_H GCST007143 Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals A 0.476 2E-16 15.699 rs514230 0.038 total cholesterol measurement (EFO:0004574)
 PMID:29507422
GWAS939628_H GCST007143 Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals A NR 9E-18 17.046 rs514230 0.036 total cholesterol measurement (EFO:0004574)
 PMID:29507422
GWAS1039408_H GCST90019496 Apolipoprotein B levels 340,860 European ancestry individuals, 5,962 African ancestry individuals, 7,275 South Asian ancestry individuals T NR 4E-68 67.398 rs514230 0.0418 apolipoprotein B measurement (EFO:0004615)
 PMID:33462484
GWAS1039712_H GCST90019494 Serum alkaline phosphatase levels 342,535 European ancestry individuals, 6,019 African ancestry individuals, 7,337 South Asian ancestry individuals T NR 2E-9 8.699 rs514230 0.0144 alkaline phosphatase measurement (EFO:0004533)
 PMID:33462484
GWAS1042480_H GCST90019495 Apolipoprotein A1 levels 311,601 European ancestry individuals, 5,550 African ancestry individuals, 6,682 South Asian ancestry individuals T NR 1E-19 19 rs514230 0.0227 apolipoprotein A 1 measurement (EFO:0004614)
 PMID:33462484
None Available GCST90019521 Total bilirubin levels 341,077 European ancestry individuals, 5,978 African ancestry individuals, 7,313 South Asian ancestry individuals T NR 2E-16 15.699 rs514230 0.0197 bilirubin measurement (EFO:0004570)
 PMID:33462484
GWAS1051334_H GCST90019510 High density lipoprotein cholesterol levels 313,372 European ancestry individuals, 5,573 African ancestry individuals, 6,689 South Asian ancestry individuals T NR 4E-13 12.398 rs514230 0.0182 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:33462484
GWAS1053684_H GCST90019501 Total cholesterol levels 342,508 European ancestry individuals, 6,014 African ancestry individuals, 7,336 South Asian ancestry individuals T NR 5E-84 83.302 rs514230 0.0465 total cholesterol measurement (EFO:0004574)
 PMID:33462484
GWAS1055414_H GCST90019524 Urate levels 342,087 European ancestry individuals, 6,011 African ancestry individuals, 7,328 South Asian ancestry individuals T NR 7E-10 9.155 rs514230 0.0148 urate measurement (EFO:0004531)
 PMID:33462484
GWAS1056207_H GCST90019511 Insulin-like growth factor 1 levels 340,567 European ancestry individuals, 5,974 African ancestry individuals, 7,283 South Asian ancestry individuals T NR 3E-22 21.523 rs514230 0.0233 IGF-1 measurement (EFO:0004627)
 PMID:33462484
GWAS1056680_H GCST90019512 Low density lipoprotein cholesterol levels 341,875 European ancestry individuals, 6,003 African ancestry individuals, 7,319 South Asian ancestry individuals T NR 1E-74 74 rs514230 0.0438 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:33462484
GWAS1060086_H GCST90092857 Cholesterol to total lipids ratio in large LDL 115,082 European ancestry individuals A 0.482378 1E-9 9 rs514230 0.0243502 cholesterol:total lipids ratio (EFO:0020943)
low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:35213538
GWAS1062022_H GCST90132957 Spread type: Flora Pro-Active/Benecol (UKB data field 1428_2) 448,696 European ancestry individuals A 0.48148 1E-8 8 rs514230 0.00877148 diet measurement (EFO:0008111)
 PMID:32193382
Database Acc Id Source(s)
GWAS Catalog GCST90269512 GWAS Catalog
  GCST90269639 GWAS Catalog
  GCST90269644 GWAS Catalog

RGD Curation Notes
Note Type Note Reference