GWAS612289_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS612289_H (eosinophil count QTL GWAS612289 (human)) Homo sapiens

Symbol: GWAS612289_H
Name: eosinophil count QTL GWAS612289 (human)
RGD ID: 406963313
Trait: eosinophil quantity   (VT:0002602)    
Measurement Type: blood eosinophil count   (CMO:0000033)    
LOD Score: Not Available
P Value: 2.0E-22
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38123,520,972 - 23,520,973RGD_MAPPER_PIPELINEGRCh38
GRCh37123,847,464 - 23,847,465RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS612289_HHumanblood eosinophil count  IAGPrs2075995405850206Based on the EFO term IDGWAS_CATALOGPMID:30595370

Vertebrate Trait
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS612289_HHumaneosinophil quantity  IAGPrs2075995405850206Based on the EFO term IDGWAS_CATALOGPMID:30595370

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS612289_HHumaneosinophil count  IAGPrs2075995405850206 GWAS_CATALOGPMID:30595370

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1348982E2F2E2F transcription factor 212350521223531233Human
153350276LOC126805658BRD4-independent group 4 enhancer GRCh37_chr1:23847293-2384849212352080123522000Human


Peak: (rs2075995)
Human AssemblyChrPosition (strand)Source
GRCh38123,520,972 - 23,520,973RGD_MAPPER_PIPELINE


1 to 10 of 24 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
596976790GWAS1096309_HRed cell distribution width QTL GWAS1096309 (human)2e-16Red cell distribution width12352097223520973Human
596958455GWAS1077974_HRed cell distribution width QTL GWAS1077974 (human)2e-37Red cell distribution width12352097223520973Human
597029136GWAS1125210_HRed cell distribution width QTL GWAS1125210 (human)2e-16Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)12352097223520973Human
597283484GWAS1379558_Heosinophil count QTL GWAS1379558 (human)1e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)12352097223520973Human
597594841GWAS1651701_Heosinophil count QTL GWAS1651701 (human)7e-14eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)12352097223520973Human
407046409GWAS695385_Hobsolete_red blood cell distribution width QTL GWAS695385 (human)2e-37obsolete_red blood cell distribution width12352097223520973Human
407134222GWAS783198_Hobsolete_red blood cell distribution width QTL GWAS783198 (human)9e-41obsolete_red blood cell distribution width12352097223520973Human
406979528GWAS628504_Hobsolete_red blood cell distribution width QTL GWAS628504 (human)2e-16obsolete_red blood cell distribution width12352097223520973Human
596949407GWAS1068926_HRed cell distribution width QTL GWAS1068926 (human)1e-24Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)12352097223520973Human

1 to 10 of 24 rows


1 to 12 of 12 rows
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
GWAS612289_H GCST007065 Eosinophil counts approximately 440,000 European ancestry individuals ? NR 2E-22 21.699 rs2075995 N/A eosinophil count (EFO:0004842)
 PMID:30595370
GWAS1068926_H GCST004621 Red cell distribution width 171,529 European ancestry individuals A 0.501 1E-24 24 rs2075995 0.03606049 Red cell distribution width (EFO:0009188)
 PMID:27863252
GWAS1125210_H GCST006804 Red cell distribution width 116,666 British ancestry individuals A 0.502 2E-16 15.699 rs2075995 0.0331247 Red cell distribution width (EFO:0009188)
 PMID:28957414
GWAS1143563_H GCST007074 Red cell distribution width approximately 445,000 European ancestry individuals ? NR 2E-37 36.699 rs2075995 N/A Red cell distribution width (EFO:0009188)
 PMID:30595370
GWAS1150197_H GCST90002381 Eosinophil counts 408,112 British individuals A 0.501124 1E-16 16 rs2075995 0.018312914 eosinophil count (EFO:0004842)
 PMID:32888494
GWAS1651403_H GCST90475294 eosinophil (absolute count, minimum, inv-norm transformed) 310,849 European ancestry individuals C 0.4976 2E-11 10.699 rs2075995 0.01848 eosinophil count (EFO:0004842)
 PMID:39024449
GWAS1651701_H GCST90475300 eosinophil (fraction, mean, inv-norm transformed) 335,542 European ancestry individuals C 0.4981 7E-14 13.155 rs2075995 0.02165 eosinophil count (EFO:0004842)
 PMID:39024449
GWAS1660899_H GCST90476365 red cell diameter width (RDW, minimum, inv-norm transformed) 380,819 European ancestry individuals C 0.4977 4E-17 16.398 rs2075995 0.02207 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1209702_H GCST90002404 Red cell distribution width 408,112 British individuals A 0.501242 9E-41 40.046 rs2075995 0.029503876 Red cell distribution width (EFO:0009188)
 PMID:32888494
GWAS734336_H GCST004606 Eosinophil counts 172,275 European ancestry individuals A 0.5011 8E-11 10.097 rs2075995 0.02306474 eosinophil count (EFO:0004842)
 PMID:27863252
GWAS1671944_H GCST90480673 red cell diameter width (RDW, minimum, inv-norm transformed) 110,610 African American or Afro-Caribbean individuals, 51,949 Hispanic or Latin American individuals, 5,548 East Asian ancestry individuals, 380,819 European ancestry individuals C 0.5848 4E-13 12.398 rs2075995 0.02209 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1379558_H GCST90018953 Eosinophil counts 349,856 European ancestry individuals, 93,063 East Asian ancestry individuals A NR 1E-15 15 rs2075995 0.0131 eosinophil count (EFO:0004842)
 PMID:34594039
1 to 12 of 12 rows
Database
Acc Id
Source(s)
GWAS Catalog GCST007065 GWAS Catalog

Note Type Note Reference