GWAS558698_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS558698_H (bone density, lean body mass QTL GWAS558698 (human)) Homo sapiens

Symbol: GWAS558698_H
Name: bone density, lean body mass QTL GWAS558698 (human)
RGD ID: 406909722
Trait: body lean mass   (VT:0010483)    
bone mineral mass   (VT:0005007)    
Measurement Type: bone mineral density   (CMO:0001226)    
total body lean mass   (CMO:0003950)    
LOD Score: Not Available
P Value: 6.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38122,120,823 - 22,120,824RGD_MAPPER_PIPELINEGRCh38
GRCh37122,447,316 - 22,447,317RGD_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)
GWAS558698_HHumanbone mineral density  IAGPrs3765350405850206Based on the EFO term IDGWAS_CATALOGPMID:28743860
GWAS558698_HHumantotal body lean mass  IAGPrs3765350405850206Based on the EFO term IDGWAS_CATALOGPMID:28743860

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS558698_HHumanbody lean mass  IAGPrs3765350405850206Based on the EFO term IDGWAS_CATALOGPMID:28743860
GWAS558698_HHumanbone mineral mass  IAGPrs3765350405850206Based on the EFO term IDGWAS_CATALOGPMID:28743860

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS558698_HHumanbone density  IAGPrs3765350405850206 GWAS_CATALOGPMID:28743860
GWAS558698_HHumanlean body mass  IAGPrs3765350405850206 GWAS_CATALOGPMID:28743860
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

Vertebrate Trait

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
733867WNT4Wnt family member 412211731322143097Human
155633789LOC127268023H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22446773-2244739012212028022120897Human

Position Markers

Peak: (rs3765350)
Human AssemblyChrPosition (strand)Source
GRCh38122,120,823 - 22,120,824RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407042370GWAS691346_Hbone density QTL GWAS691346 (human)4e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12212082322120824Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407042135GWAS691111_Hbone density QTL GWAS691111 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12212082322120824Human
407040330GWAS689306_Hbone density QTL GWAS689306 (human)6e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12212082322120824Human
406909722GWAS558698_Hbone density, lean body mass QTL GWAS558698 (human)6e-09body lean mass (VT:0010483)total body lean mass (CMO:0003950)12212082322120824Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
406909724GWAS558700_Hbone density QTL GWAS558700 (human)1e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12212082322120824Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
407040333GWAS689309_Hbone density QTL GWAS689309 (human)7e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12212082322120824Human


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
GWAS558698_H GCST004771 TB-LM or TBLH-BMD (pleiotropy) 8,327 European ancestry individuals, 2,087 individuals G 0.23 6E-9 8.222 rs3765350 N/A bone density (EFO:0003923)
lean body mass (EFO:0004995)
 PMID:28743860
GWAS558700_H GCST004772 Bone mineral density (paediatric, total body less head) 8,327 European ancestry individuals, 2,087 individuals G 0.23 1E-8 8 rs3765350 0.0939 bone density (EFO:0003923)
 PMID:28743860
GWAS689306_H GCST002492 Bone mineral density (paediatric, lower limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children A NR 6E-8 7.222 rs3765350 0.1071 bone density (EFO:0003923)
 PMID:24945404
GWAS689309_H GCST002494 Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children A 0.78 7E-10 9.155 rs3765350 0.107 bone density (EFO:0003923)
 PMID:24945404
GWAS691111_H GCST002492 Bone mineral density (paediatric, lower limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children A 0.78 3E-8 7.523 rs3765350 0.097 bone density (EFO:0003923)
 PMID:24945404
GWAS691346_H GCST002494 Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children A NR 4E-9 8.398 rs3765350 0.1159 bone density (EFO:0003923)
 PMID:24945404
Database Acc Id Source(s)
GWAS Catalog GCST004771 GWAS Catalog

RGD Curation Notes
Note Type Note Reference