GWAS798185_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS798185_H (lipid measurement, high density lipoprotein cholesterol measurement QTL GWAS798185 (human)) Homo sapiens

Symbol: GWAS798185_H
Name: lipid measurement, high density lipoprotein cholesterol measurement QTL GWAS798185 (human)
RGD ID: 407149209
Trait: lipid measurement, high density lipoprotein cholesterol measurement
Measurement Type: blood cholesterol level   (CMO:0002280)    
blood high density lipoprotein cholesterol level   (CMO:0000052)    
blood intermediate density lipoprotein cholesterol level   (CMO:0001562)    
blood lipid measurement   (CMO:0000050)    
LOD Score: Not Available
P Value: 5.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh382045,941,553 - 45,941,554RGD_MAPPER_PIPELINEGRCh38
GRCh372044,570,192 - 44,570,193RGD_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)
GWAS798185_HHumanblood cholesterol level  IAGPrs6073966405850206Based on the EFO term IDGWAS_CATALOGPMID:35213538
GWAS798185_HHumanblood high density lipoprotein cholesterol level  IAGPrs6073966405850206Based on the EFO term IDGWAS_CATALOGPMID:34610981
GWAS798185_HHumanblood intermediate density lipoprotein cholesterol level  IAGPrs6073966405850206Based on the EFO term IDGWAS_CATALOGPMID:35213538
GWAS798185_HHumanblood lipid measurement  IAGPrs6073966405850206Based on the EFO term IDGWAS_CATALOGPMID:34610981

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

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
1321911PCIF1phosphorylated CTD interacting factor 1204593468345948020Human

Position Markers

Peak: (rs6073966)
Human AssemblyChrPosition (strand)Source
GRCh382045,941,553 - 45,941,554RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406991011GWAS639987_Hmean corpuscular hemoglobin concentration QTL GWAS639987 (human)4e-29mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)204594155345941554Human
407326529GWAS975505_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS975505 (human)1e-11very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)204594155345941554Human
407134723GWAS783699_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS783699 (human)4e-14triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204594155345941554Human
407128780GWAS777756_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS777756 (human)6e-11low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)204594155345941554Human
407064173GWAS713149_Hred blood cell density measurement QTL GWAS713149 (human)3e-22red blood cell density measurement204594155345941554Human
407111627GWAS760603_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS760603 (human)2e-18low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)204594155345941554Human
407005682GWAS654658_Hmean corpuscular hemoglobin QTL GWAS654658 (human)4e-21mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)204594155345941554Human
407236214GWAS885190_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS885190 (human)3e-08lipid measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)204594155345941554Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
407333011GWAS981987_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS981987 (human)1e-12triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204594155345941554Human
406951605GWAS600581_Hmean corpuscular volume QTL GWAS600581 (human)2e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)204594155345941554Human
406996567GWAS645543_Hmean corpuscular hemoglobin concentration QTL GWAS645543 (human)2e-26mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)204594155345941554Human
407045013GWAS693989_Hsexual dimorphism measurement QTL GWAS693989 (human)4e-18sexual dimorphism measurement204594155345941554Human
407112466GWAS761442_Herythrocyte count QTL GWAS761442 (human)3e-16erythrocyte countred blood cell count (CMO:0000025)204594155345941554Human
407097979GWAS746955_Hphospholipids:total lipids ratio QTL GWAS746955 (human)4e-15phospholipids:total lipids ratio204594155345941554Human
406891068GWAS540044_Hmean corpuscular hemoglobin QTL GWAS540044 (human)6e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)204594155345941554Human
407023326GWAS672302_Htriglycerides to total lipids in very large VLDL percentage QTL GWAS672302 (human)5e-10triglycerides to total lipids in very large VLDL percentage 204594155345941554Human
407289402GWAS938378_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS938378 (human)2e-22very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)204594155345941554Human
407149209GWAS798185_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS798185 (human)5e-13free cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)204594155345941554Human
407151513GWAS800489_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS800489 (human)7e-10triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204594155345941554Human
407269467GWAS918443_Htotal cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS918443 (human)4e-08total cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)204594155345941554Human
407185147GWAS834123_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS834123 (human)1e-16very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)204594155345941554Human


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
GWAS540044_H GCST004630 Mean corpuscular hemoglobin 172,332 European ancestry individuals T 0.1685 6E-13 12.222 rs6073966 0.03408914 mean corpuscular hemoglobin (EFO:0004527)
 PMID:27863252
GWAS600581_H GCST004602 Mean corpuscular volume 172,433 European ancestry individuals T 0.1685 2E-13 12.699 rs6073966 0.03466183 mean corpuscular volume (EFO:0004526)
 PMID:27863252
GWAS639987_H GCST90002322 Mean corpuscular hemoglobin 486,823 European ancestry individuals T 0.169064 4E-29 28.398 rs6073966 0.028814 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GWAS645543_H GCST90002326 Mean corpuscular hemoglobin 630,125 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals T 0.133815 2E-26 25.699 rs6073966 N/A mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GWAS654658_H GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals T 0.169555 4E-21 20.398 rs6073966 0.027764544 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
GWAS672302_H GCST90269685 Triglycerides to total lipids in very large VLDL percentage (UKB data field 23588) 87,620 European ancestry individuals T 0.168704 5E-10 9.302 rs6073966 0.0383167 triglycerides to total lipids in very large VLDL percentage (EFO:0022340)
 PMID:36764567
GWAS693989_H GCST90270116 Multi-trait sex score 161,906 European ancestry females ? NR 4E-18 17.398 rs6073966 N/A sexual dimorphism measurement (EFO:0021796)
 PMID:37277458
GWAS713149_H GCST90002363 Red blood cell count 545,203 European ancestry individuals T 0.167908 3E-22 21.523 rs6073966 0.024136 red blood cell density measurement (EFO:0007978)
 PMID:32888493
GWAS746955_H GCST90269691 Phospholipids to total lipids in medium VLDL percentage (UKB data field 23594) 88,329 European ancestry individuals T 0.16875 4E-15 14.398 rs6073966 0.04806 phospholipids:total lipids ratio (EFO:0020946)
 PMID:36764567
GWAS760603_H GCST90302016 Phospholipids to total lipids ratio in large LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals T 0.1593 2E-18 17.699 rs6073966 0.0477 low density lipoprotein cholesterol measurement (EFO:0004611)
phospholipids:total lipids ratio (EFO:0020946)
 PMID:38448586
GWAS761442_H GCST90002403 Red blood cell count 408,112 British individuals T 0.169622 3E-16 15.523 rs6073966 0.024119074 erythrocyte count (EFO:0004305)
 PMID:32888494
GWAS777756_H GCST90302100 Phospholipids to total lipids ratio in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals T 0.1595 6E-11 10.222 rs6073966 0.0354 low density lipoprotein cholesterol measurement (EFO:0004611)
phospholipids:total lipids ratio (EFO:0020946)
 PMID:38448586
GWAS783699_H GCST90302052 Phospholipids to total lipids ratio in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals T 0.1595 4E-14 13.398 rs6073966 0.0408 low density lipoprotein cholesterol measurement (EFO:0004611)
phospholipids:total lipids ratio (EFO:0020946)
 PMID:38448586
GWAS834123_H GCST90092871 Cholesteryl esters to total lipids ratio in large VLDL 115,071 European ancestry individuals C 0.830974 1E-16 16 rs6073966 0.0436631 very low density lipoprotein cholesterol measurement (EFO:0008317)
cholesteryl esters:total lipids ratio (EFO:0020944)
 PMID:35213538
GWAS885190_H GCST90092837 Total lipid levels in IDL 115,082 European ancestry individuals C 0.830981 3E-8 7.523 rs6073966 0.0297108 lipid measurement (EFO:0004529)
intermediate density lipoprotein measurement (EFO:0008595)
 PMID:35213538
None Available GCST90092835 Free cholesterol levels in IDL 115,082 European ancestry individuals C 0.830981 5E-13 12.302 rs6073966 0.0386323 free cholesterol measurement (EFO:0008591)
intermediate density lipoprotein measurement (EFO:0008595)
 PMID:35213538
GWAS918443_H GCST90092831 Cholesterol levels in IDL 115,082 European ancestry individuals C 0.830981 4E-8 7.398 rs6073966 0.0293503 total cholesterol measurement (EFO:0004574)
intermediate density lipoprotein measurement (EFO:0008595)
 PMID:35213538
GWAS938378_H GCST90092925 Phospholipids to total lipids ratio in medium VLDL 115,082 European ancestry individuals C 0.830981 2E-22 21.699 rs6073966 0.0516248 very low density lipoprotein cholesterol measurement (EFO:0008317)
phospholipids:total lipids ratio (EFO:0020946)
 PMID:35213538
None Available GCST90093027 Triglycerides to total lipids ratio in very large VLDL 114,160 European ancestry individuals C 0.831054 4E-14 13.398 rs6073966 0.0404895 triglycerides:total lipids ratio (EFO:0020947)
very low density lipoprotein cholesterol measurement (EFO:0008317)
 PMID:35213538
GWAS975505_H GCST90093017 Cholesterol to total lipids ratio in very large VLDL 114,160 European ancestry individuals C 0.831054 1E-11 11 rs6073966 0.0359344 very low density lipoprotein cholesterol measurement (EFO:0008317)
cholesterol:total lipids ratio (EFO:0020943)
 PMID:35213538
GWAS981987_H GCST90092979 Triglycerides to total lipids ratio in small VLDL 115,082 European ancestry individuals C 0.830981 1E-12 12 rs6073966 0.0378799 triglycerides:total lipids ratio (EFO:0020947)
very low density lipoprotein cholesterol measurement (EFO:0008317)
 PMID:35213538
None Available GCST90091593 Fasting total lipids in small HDL null T 0.184059509 5E-13 12.302 rs6073966 0.1916 lipid measurement (EFO:0004529)
high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:34610981
None Available GCST90091627 Fasting triglycerides levels in very large HDL null T 0.183064685 7E-10 9.155 rs6073966 0.166866 triglyceride measurement (EFO:0004530)
high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:34610981
Database Acc Id Source(s)
GWAS Catalog GCST90091593 GWAS Catalog
  GCST90092835 GWAS Catalog

RGD Curation Notes
Note Type Note Reference