GWAS1060079_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1060079_H (total cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1060079 (human)) Homo sapiens

Symbol: GWAS1060079_H
Name: total cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1060079 (human)
RGD ID: 407411103
Trait: total cholesterol measurement, low density lipoprotein cholesterol measurement
Measurement Type: blood low density lipoprotein cholesterol level   (CMO:0000053)    
blood total cholesterol level   (CMO:0000051)    
LOD Score: Not Available
P Value: 8.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38552,799,190 - 52,799,191RGD_MAPPER_PIPELINEGRCh38
GRCh37552,095,024 - 52,095,025RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1060079_HHumanblood low density lipoprotein cholesterol level  IAGPrs116734477405850206Based on the EFO term IDGWAS_CATALOGPMID:35213538
GWAS1060079_HHumanblood total cholesterol level  IAGPrs116734477405850206Based on the EFO term IDGWAS_CATALOGPMID:35213538

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1060079_HHumanlow density lipoprotein cholesterol measurement  IAGPrs116734477405850206 GWAS_CATALOGPMID:35213538
GWAS1060079_HHumantotal cholesterol measurement  IAGPrs116734477405850206 GWAS_CATALOGPMID:35213538
Experimental Data 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

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
153002614PELO-AS1PELO antisense RNA 155267342752800813Human
1343336PELOpelota mRNA surveillance and ribosome rescue factor55278791652804044Human
69006ITGA1integrin subunit alpha 155278791652959209Human

Position Markers

Peak: (rs116734477)
Human AssemblyChrPosition (strand)Source
GRCh38552,799,190 - 52,799,191RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407411116GWAS1060092_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1060092 (human)9e-09very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)55279919052799191Human
407035111GWAS684087_Hfree cholesterol in medium LDL measurement QTL GWAS684087 (human)3e-12free cholesterol in medium LDL measurement 55279919052799191Human
407088165GWAS737141_Hreticulocyte count QTL GWAS737141 (human)1e-187reticulocyte counttotal reticulocyte count (CMO:0003020)55279919052799191Human
407414542GWAS1063518_Hlow density lipoprotein cholesterol measurement QTL GWAS1063518 (human)4e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407399342GWAS1048318_Htotal cholesterol measurement QTL GWAS1048318 (human)2e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407074020GWAS722996_Hlow density lipoprotein cholesterol measurement QTL GWAS722996 (human)1e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407033226GWAS682202_Hfree cholesterol in LDL measurement QTL GWAS682202 (human)4e-11free cholesterol in LDL measurement 55279919052799191Human
407039210GWAS688186_Hcholesterol in large LDL measurement QTL GWAS688186 (human)7e-10cholesterol in large LDL measurement 55279919052799191Human
407411840GWAS1060816_Hlow density lipoprotein cholesterol measurement QTL GWAS1060816 (human)2e-43low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407399553GWAS1048529_HC-reactive protein measurement QTL GWAS1048529 (human)2e-23C-reactive protein measurementblood C-reactive protein level (CMO:0003160)55279919052799191Human
407414723GWAS1063699_Htotal cholesterol measurement QTL GWAS1063699 (human)1e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407069198GWAS718174_Hlow density lipoprotein cholesterol measurement QTL GWAS718174 (human)3e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407381735GWAS1030711_Hreticulocyte count QTL GWAS1030711 (human)1e-265reticulocyte counttotal reticulocyte count (CMO:0003020)55279919052799191Human
407038838GWAS687814_Hfree cholesterol in large LDL measurement QTL GWAS687814 (human)5e-10total lipids in large LDL55279919052799191Human
407382687GWAS1031663_Hreticulocyte measurement QTL GWAS1031663 (human)2e-266reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55279919052799191Human
407411103GWAS1060079_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1060079 (human)8e-11total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407398256GWAS1047232_Htotal cholesterol measurement QTL GWAS1047232 (human)1e-19total cholesterol measurementblood total cholesterol level (CMO:0000051)55279919052799191Human
407065914GWAS714890_Hapolipoprotein B measurement QTL GWAS714890 (human)2e-33low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407054777GWAS703753_Hreticulocyte measurement QTL GWAS703753 (human)2e-193reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)55279919052799191Human
407032313GWAS681289_Hlow density lipoprotein cholesterol measurement QTL GWAS681289 (human)9e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)55279919052799191Human
407036927GWAS685903_Hphospholipids in small LDL measurement QTL GWAS685903 (human)2e-11phospholipids in small LDL measurement 55279919052799191Human
407035869GWAS684845_Hfree cholesterol in small LDL measurement QTL GWAS684845 (human)2e-13free cholesterol in small LDL measurement 55279919052799191Human


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
GWAS681289_H GCST90269501 Clinical LDL cholesterol levels (UKB data field 23404) 88,329 European ancestry individuals T 0.0414913 9E-11 10.046 rs116734477 0.0769102 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:36764567
GWAS682202_H GCST90269518 Free cholesterol in LDL (UKB data field 23421) 88,329 European ancestry individuals T 0.0414913 4E-11 10.398 rs116734477 0.0779356 free cholesterol in LDL measurement (EFO:0022266)
 PMID:36764567
GWAS684087_H GCST90269639 Free cholesterol in medium LDL (UKB data field 23542) 88,329 European ancestry individuals T 0.0414913 3E-12 11.523 rs116734477 0.0830316 free cholesterol in medium LDL measurement (EFO:0022268)
 PMID:36764567
GWAS684845_H GCST90269646 Free cholesterol in small LDL (UKB data field 23549) 88,329 European ancestry individuals T 0.0414913 2E-13 12.699 rs116734477 0.0875786 free cholesterol in small LDL measurement (EFO:0022271)
 PMID:36764567
GWAS685903_H GCST90269643 Phospholipids in small LDL (UKB data field 23546) 88,329 European ancestry individuals T 0.0414913 2E-11 10.699 rs116734477 0.0800352 phospholipids in small LDL measurement (EFO:0022297)
 PMID:36764567
GWAS687814_H GCST90269632 Free cholesterol in large LDL (UKB data field 23535) 88,329 European ancestry individuals T 0.0414913 5E-10 9.302 rs116734477 0.073025 free cholesterol in large LDL measurement (EFO:0022176)
 PMID:36764567
GWAS688186_H GCST90269630 Cholesterol in large LDL (UKB data field 23533) 88,329 European ancestry individuals T 0.0414913 7E-10 9.155 rs116734477 0.0725861 cholesterol in large LDL measurement (EFO:0021901)
 PMID:36764567
None Available GCST90269628 Total lipids in large LDL (UKB data field 23531) 88,329 European ancestry individuals T 0.0414913 5E-10 9.302 rs116734477 0.0734819 total lipids in large LDL (EFO:0022163)
 PMID:36764567
GWAS703753_H GCST90002387 Immature fraction of reticulocytes 408,112 British individuals T 0.0411 2E-193 192.699 rs116734477 0.1687924 reticulocyte measurement (EFO:0010700)
 PMID:32888494
GWAS714890_H GCST010243 Apolipoprotein B levels 439,214 European ancestry individuals C 0.959187 2E-33 32.699 rs116734477 0.0634849 apolipoprotein B measurement (EFO:0004615)
 PMID:32203549
GWAS718174_H GCST010245 LDL cholesterol levels 440,546 European ancestry individuals C 0.959164 3E-19 18.523 rs116734477 0.0474419 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:32203549
GWAS722996_H GCST010204 Low density lipoprotein cholesterol levels 324,708 British ancestry individuals ? NR 1E-20 20 rs116734477 0.0598 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:32154731
GWAS737141_H GCST90002405 Reticulocyte count 408,112 British individuals T 0.041103 1E-187 187 rs116734477 0.16577712 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS1030711_H GCST90002385 High light scatter reticulocyte count 408,112 British individuals T 0.041103 1E-265 265 rs116734477 0.19638701 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS1031663_H GCST90002386 High light scatter reticulocyte percentage of red cells 408,112 British individuals T 0.041107 2E-266 265.699 rs116734477 0.19661127 reticulocyte measurement (EFO:0010700)
 PMID:32888494
None Available GCST90239658 Low density lipoprotein cholesterol levels 1,320,016 European ancestry individuals T 0.0376629 2E-33 32.699 rs116734477 0.0511426 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:34887591
GWAS1047232_H GCST90239673 Total cholesterol levels 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals ? NR 1E-19 19 rs116734477 N/A total cholesterol measurement (EFO:0004574)
 PMID:34887591
GWAS1048318_H GCST90239676 Total cholesterol levels 1,320,016 European ancestry individuals T 0.0376416 2E-16 15.699 rs116734477 0.0347853 total cholesterol measurement (EFO:0004574)
 PMID:34887591
GWAS1048529_H GCST90179146 C-reactive protein levels (MTAG) 575,531 European ancestry individuals T NR 2E-23 22.699 rs116734477 0.05148 C-reactive protein measurement (EFO:0004458)
 PMID:36376304
GWAS1060079_H GCST90092856 Cholesterol levels in large LDL 115,082 European ancestry individuals C 0.958805 8E-11 10.097 rs116734477 0.0669917 total cholesterol measurement (EFO:0004574)
low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:35213538
GWAS1060092_H GCST90092971 Cholesteryl esters to total lipids ratio in small VLDL 115,082 European ancestry individuals C 0.958805 9E-9 8.046 rs116734477 0.0590621 very low density lipoprotein cholesterol measurement (EFO:0008317)
cholesteryl esters:total lipids ratio (EFO:0020944)
 PMID:35213538
GWAS1060816_H GCST90239655 Low density lipoprotein cholesterol levels 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals ? NR 2E-43 42.699 rs116734477 N/A low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:34887591
GWAS1063518_H GCST90018961 LDL cholesterol 343,621 European ancestry individuals, 72,866 East Asian ancestry individuals T NR 4E-18 17.398 rs116734477 0.0514 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:34594039
GWAS1063699_H GCST90018974 Total cholesterol levels 344,278 European ancestry individuals, 135,808 East Asian ancestry individuals T NR 1E-11 11 rs116734477 0.0396 total cholesterol measurement (EFO:0004574)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90092856 GWAS Catalog

RGD Curation Notes
Note Type Note Reference