GWAS772040_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS772040_H (esterified cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS772040 (human)) Homo sapiens

Symbol: GWAS772040_H
Name: esterified cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS772040 (human)
RGD ID: 407123064
Trait: esterified cholesterol measurement, low density lipoprotein cholesterol measurement
Measurement Type: blood low density lipoprotein cholesterol level   (CMO:0000053)    
LOD Score: Not Available
P Value: 9.0E-12
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381332,396,599 - 32,396,600RGD_MAPPER_PIPELINEGRCh38
GRCh371332,970,736 - 32,970,737RGD_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)
GWAS772040_HHumanblood low density lipoprotein cholesterol level  IAGPrs1012129405850206Based on the EFO term IDGWAS_CATALOGPMID:38448586

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS772040_HHumanesterified cholesterol measurement  IAGPrs1012129405850206 GWAS_CATALOGPMID:38448586
GWAS772040_HHumanlow density lipoprotein cholesterol measurement  IAGPrs1012129405850206 GWAS_CATALOGPMID:38448586
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
736254BRCA2BRCA2 DNA repair associated133231507732400268Human

Position Markers

Peak: (rs1012129)
Human AssemblyChrPosition (strand)Source
GRCh381332,396,599 - 32,396,600RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407126278GWAS775254_Htotal lipids in small LDL QTL GWAS775254 (human)2e-11total lipids in small LDL133239659932396600Human
407093632GWAS742608_Hfree cholesterol in medium LDL measurement QTL GWAS742608 (human)8e-11free cholesterol in medium LDL measurement 133239659932396600Human
407082343GWAS731319_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS731319 (human)7e-12total cholesterol in medium LDLblood lipid measurement (CMO:0000050)133239659932396600Human
407126992GWAS775968_Hfree cholesterol in small LDL measurement QTL GWAS775968 (human)1e-09sphingomyelin measurement133239659932396600Human
407082458GWAS731434_Hlow density lipoprotein cholesterol measurement QTL GWAS731434 (human)4e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)133239659932396600Human
407125038GWAS774014_Hlow density lipoprotein cholesterol measurement QTL GWAS774014 (human)1e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)133239659932396600Human
407123064GWAS772040_Hesterified cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS772040 (human)9e-12esterified cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)133239659932396600Human


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
GWAS731319_H GCST90302049 Total lipid levels in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.5329 7E-12 11.155 rs1012129 0.0282 low density lipoprotein cholesterol measurement (EFO:0004611)
lipid measurement (EFO:0004529)
 PMID:38448586
GWAS731434_H GCST90302050 Concentration of medium LDL particles 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.533 4E-12 11.398 rs1012129 0.0286 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:38448586
GWAS742608_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 0.533 8E-11 10.097 rs1012129 0.0268 free cholesterol in medium LDL measurement (EFO:0022268)
 PMID:38448586
None Available GCST90302043 Total cholesterol in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.5329 7E-12 11.155 rs1012129 0.0283 total cholesterol in medium LDL (EFO:0022185)
 PMID:38448586
GWAS772040_H GCST90302093 Cholesterol esters in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.532 9E-12 11.046 rs1012129 0.0275 esterified cholesterol measurement (EFO:0008589)
low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:38448586
GWAS774014_H GCST90302098 Concentration of small LDL particles 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.5329 1E-11 11 rs1012129 0.028 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:38448586
GWAS775254_H GCST90302097 Total lipids in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.5329 2E-11 10.699 rs1012129 0.0277 total lipids in small LDL (EFO:0022168)
 PMID:38448586
GWAS775968_H GCST90302095 Free cholesterol in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.533 1E-9 9 rs1012129 0.0251 free cholesterol in small LDL measurement (EFO:0022271)
 PMID:38448586
None Available GCST90302091 Total Cholesterol in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.5329 7E-12 11.155 rs1012129 0.0283 total cholesterol in small LDL (EFO:0022179)
 PMID:38448586
None Available GCST90302103 Sphingomyelins levels 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 110,896 European ancestry individuals C 0.5333 1E-9 9 rs1012129 0.0261 sphingomyelin measurement (EFO:0010118)
 PMID:38448586
Database Acc Id Source(s)
GWAS Catalog GCST90302093 GWAS Catalog

RGD Curation Notes
Note Type Note Reference