GWAS707131_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS707131_H (esterified cholesterol measurement QTL GWAS707131 (human)) Homo sapiens

Symbol: GWAS707131_H
Name: esterified cholesterol measurement QTL GWAS707131 (human)
RGD ID: 407058155
Trait: esterified cholesterol measurement
Measurement Type: blood total cholesterol level   (CMO:0000051)    
LOD Score: Not Available
P Value: 1.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3811126,364,925 - 126,364,926RGD_MAPPER_PIPELINEGRCh38
GRCh3711126,234,820 - 126,234,821RGD_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)
GWAS707131_HHumanblood total cholesterol level  IAGPrs78689694405850206Based on the EFO term IDGWAS_CATALOGPMID:38448586

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS707131_HHumanesterified cholesterol measurement  IAGPrs78689694405850206 GWAS_CATALOGPMID:38448586
GWAS707131_HHumantotal cholesterol measurement  IAGPrs78689694405850206 GWAS_CATALOGPMID:38448586
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
1353529ST3GAL4ST3 beta-galactoside alpha-2,3-sialyltransferase 411126355686126414638Human
155772471LOC127822985H3K4me1 hESC enhancer GRCh37_chr11:126234481-12623499811126364586126365103Human

Position Markers

Peak: (rs78689694)
Human AssemblyChrPosition (strand)Source
GRCh3811126,364,925 - 126,364,926RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406942721GWAS591697_Hprotein measurement QTL GWAS591697 (human)3e-13protein measurement11126364925126364926Human
407033120GWAS682096_Hdocosahexaenoic acid measurement QTL GWAS682096 (human)3e-11fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)11126364925126364926Human
407092391GWAS741367_Hfree cholesterol in medium LDL measurement QTL GWAS741367 (human)2e-13remnant cholesterol measurement11126364925126364926Human
407077060GWAS726036_Hapolipoprotein B measurement QTL GWAS726036 (human)7e-14apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)11126364925126364926Human
407058155GWAS707131_Hesterified cholesterol measurement QTL GWAS707131 (human)1e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)11126364925126364926Human
407085674GWAS734650_Hphospholipids in medium LDL measurement QTL GWAS734650 (human)5e-15phospholipids in medium LDL measurementblood low density lipoprotein phospholipid level (CMO:0001568)11126364925126364926Human
406937421GWAS586397_Halkaline phosphatase measurement QTL GWAS586397 (human)2e-12fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)11126364925126364926Human
406955822GWAS604798_Ht-cell surface glycoprotein CD5 measurement QTL GWAS604798 (human)2e-19t-cell surface glycoprotein CD5 measurement11126364925126364926Human
406929137GWAS578113_Hbody height QTL GWAS578113 (human)2e-10body height (VT:0001253)blood total cholesterol level (CMO:0000051)11126364925126364926Human
406916688GWAS565664_Hlow density lipoprotein cholesterol measurement QTL GWAS565664 (human)7e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11126364925126364926Human
407127830GWAS776806_Hphospholipids in small LDL measurement QTL GWAS776806 (human)1e-12phospholipids in small LDL measurement 11126364925126364926Human
407291828GWAS940804_Hdocosahexaenoic acid measurement QTL GWAS940804 (human)1e-10fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)11126364925126364926Human
407292946GWAS941922_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS941922 (human)1e-13phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11126364925126364926Human
407257265GWAS906241_Homega-3 polyunsaturated fatty acid measurement QTL GWAS906241 (human)2e-08omega-3 polyunsaturated fatty acid measurement11126364925126364926Human
406920984GWAS569960_Htotal cholesterol measurement QTL GWAS569960 (human)8e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)11126364925126364926Human
407095002GWAS743978_Hlow density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS743978 (human)5e-13low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)11126364925126364926Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407238553GWAS887529_Htransferrin glycosylation measurement QTL GWAS887529 (human)3e-20transferrin glycosylation measurement11126364925126364926Human
406952189GWAS601165_Hinterleukin-6 receptor subunit beta measurement QTL GWAS601165 (human)1e-22interleukin-6 receptor subunit beta measurement11126364925126364926Human


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
GWAS565664_H GCST90278638 Low density lipoprotein cholesterol levels 92,615 Taiwanese ancestry individuals ? NR 7E-12 11.155 rs78689694 N/A low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:38116116
GWAS569960_H GCST90278644 Total cholesterol levels 92,615 Taiwanese ancestry individuals ? NR 8E-10 9.097 rs78689694 N/A total cholesterol measurement (EFO:0004574)
 PMID:38116116
GWAS578113_H GCST008839 Height 159,095 Japanese ancestry individuals ? NR 2E-10 9.699 rs78689694 0.019088306 body height (EFO:0004339)
 PMID:31562340
GWAS586397_H GCST009652 Serum alkaline phosphatase levels 162,774 Icelandic ancestry individuals C 0.105 2E-12 11.699 rs78689694 0.05 alkaline phosphatase measurement (EFO:0004533)
 PMID:31666285
GWAS591697_H GCST90249042 Plexin-D1 levels 10,708 European ancestry individuals C 0.13 3E-13 12.523 rs78689694 0.144 protein measurement (EFO:0004747)
 PMID:34648354
GWAS601165_H GCST90248077 Interleukin-6 receptor subunit beta levels 10,708 European ancestry individuals C 0.13 1E-22 22 rs78689694 0.193 interleukin-6 receptor subunit beta measurement (EFO:0801732)
 PMID:34648354
GWAS604798_H GCST90249781 T-cell surface glycoprotein CD5 levels 10,708 European ancestry individuals C 0.13 2E-19 18.699 rs78689694 0.17 t-cell surface glycoprotein CD5 measurement (EFO:0803134)
 PMID:34648354
None Available GCST90247167 Complement receptor type 1 levels 10,708 European ancestry individuals C 0.13 2E-12 11.699 rs78689694 0.14 protein measurement (EFO:0004747)
 PMID:34648354
GWAS682096_H GCST90269547 Docosahexaenoic acid levels (UKB data field 23450) 88,268 European ancestry individuals C 0.132798 3E-11 10.523 rs78689694 0.0442403 docosahexaenoic acid measurement (EFO:0007761)
 PMID:36764567
GWAS707131_H GCST90301957 Esterified cholesterol levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1482 1E-9 9 rs78689694 0.0342 esterified cholesterol measurement (EFO:0008589)
 PMID:38448586
GWAS726036_H GCST90301946 Apolipoprotein B levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 7E-14 13.155 rs78689694 0.042 apolipoprotein B measurement (EFO:0004615)
 PMID:38448586
GWAS734650_H GCST90302051 Phospholipids in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 5E-15 14.302 rs78689694 0.044 phospholipids in medium LDL measurement (EFO:0022183)
 PMID:38448586
GWAS741367_H GCST90302047 Free cholesterol in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 2E-13 12.699 rs78689694 0.0415 free cholesterol in medium LDL measurement (EFO:0022268)
 PMID:38448586
GWAS743978_H GCST90302010 Cholesteryl esters to total lipids ratio in large LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 5E-13 12.302 rs78689694 0.0405 low density lipoprotein cholesterol measurement (EFO:0004611)
cholesteryl esters:total lipids ratio (EFO:0020944)
 PMID:38448586
None Available GCST90302074 Remnant cholesterol (non-HDL, non-LDL -cholesterol) 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 2E-13 12.699 rs78689694 0.0412 remnant cholesterol measurement (EFO:0010815)
 PMID:38448586
None Available GCST90302075 Serum total cholesterol levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 1E-9 9 rs78689694 0.0342 total cholesterol measurement (EFO:0004574)
 PMID:38448586
None Available GCST90302095 Free cholesterol in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 2E-12 11.699 rs78689694 0.0395 free cholesterol in small LDL measurement (EFO:0022271)
 PMID:38448586
GWAS776806_H GCST90302099 Phospholipids in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.1481 1E-12 12 rs78689694 0.04 phospholipids in small LDL measurement (EFO:0022297)
 PMID:38448586
GWAS887529_H GCST90129355 Transferrin N-glycan 11 levels 1,890 Korculan or Shetland Isles (founder/genetic isolate) individuals C NR 3E-20 19.523 rs78689694 0.439106 transferrin glycosylation measurement (EFO:0021537)
 PMID:35332118
GWAS906241_H GCST90092931 Omega-3 fatty acid levels 115,006 European ancestry individuals G 0.866638 2E-8 7.699 rs78689694 0.0326453 omega-3 polyunsaturated fatty acid measurement (EFO:0010119)
 PMID:35213538
GWAS940804_H GCST90133361 Circulating docosahexaenoic acid levels 114,999 European ancestry individuals G 0.87 1E-10 10 rs78689694 0.038 docosahexaenoic acid measurement (EFO:0007761)
 PMID:35692035
GWAS941922_H GCST90092953 Phospholipids to total lipids ratio in small HDL 115,082 European ancestry individuals G 0.866653 1E-13 13 rs78689694 0.0437704 phospholipids:total lipids ratio (EFO:0020946)
high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:35213538
None Available GCST90092816 Docosahexaenoic acid levels 115,006 European ancestry individuals G 0.866638 2E-12 11.699 rs78689694 0.0405572 docosahexaenoic acid measurement (EFO:0007761)
 PMID:35213538
None Available GCST90239675 Total cholesterol levels 146,492 East Asian ancestry individuals C 0.315397 2E-10 9.699 rs78689694 0.0314661 total cholesterol measurement (EFO:0004574)
 PMID:34887591
Database Acc Id Source(s)
GWAS Catalog GCST90301957 GWAS Catalog
  GCST90302075 GWAS Catalog

RGD Curation Notes
Note Type Note Reference