rs2031494

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0147 (4414/29956,GnomAD)
T==0130 (3798/29118,TOPMED)
T==0079 (396/5008,1000G)
T==0208 (803/3854,ALSPAC)
T==0205 (760/3708,TWINSUK)
chr1:92500412 (GRCh38.p7) (1p22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92500412T>C
GRCh37.p13 chr 1NC_000001.10:g.92965969T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.048C=0.952
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.025C=0.975
1000GenomesEuropeSub1006T=0.191C=0.809
1000GenomesGlobalStudy-wide5008T=0.079C=0.921
1000GenomesSouth AsianSub978T=0.040C=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.208C=0.792
The Genome Aggregation DatabaseAfricanSub8726T=0.072C=0.928
The Genome Aggregation DatabaseAmericanSub838T=0.090C=0.910
The Genome Aggregation DatabaseEast AsianSub1622T=0.033C=0.967
The Genome Aggregation DatabaseEuropeSub18470T=0.196C=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29956T=0.147C=0.852
The Genome Aggregation DatabaseOtherSub300T=0.090C=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.130C=0.869
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.205C=0.795
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
20075157A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.Khandanpour CBlood

P-Value

SNP ID p-value Traits Study
rs20314944.08E-05alcohol consumption23953852

eQTL of rs2031494 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92965969EVI5ENSG00000067208.10T>C3.7726e-3-291992Hippocampus

meQTL of rs2031494 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19295211692952373E067-13596
chr19295211692952373E068-13596
chr19295211692952373E069-13596
chr19295237592952837E069-13132
chr19295211692952373E071-13596
chr19295237592952837E071-13132
chr19295211692952373E072-13596
chr19294757092952045E073-13924
chr19295211692952373E073-13596
chr19295211692952373E074-13596
chr19295237592952837E074-13132