rs11813439

Homo sapiens
G>A
ENTPD7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0032 (970/29820,GnomAD)
A=0050 (1482/29118,TOPMED)
A=0030 (151/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr10:99692612 (GRCh38.p7) (10q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.99692612G>A
GRCh37.p13 chr 10NC_000010.10:g.101452369G>A

Gene: ENTPD7, ectonucleoside triphosphate diphosphohydrolase 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ENTPD7 transcriptNM_020354.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.890A=0.110
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.970A=0.030
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8674G=0.889A=0.111
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1616G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18390G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29820G=0.967A=0.032
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.949A=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs118134390.0000315alcoholismpha002891
rs118134390.0000315alcohol dependence20201924

eQTL of rs11813439 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs11813439 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr10101493116101493166E06740747
chr10101493225101493771E06840856
chr10101493225101493771E06940856
chr10101493116101493166E07140747
chr10101493225101493771E07140856
chr10101490296101490386E07237927
chr10101490393101490441E07238024
chr10101493225101493771E07340856
chr10101493116101493166E07440747







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10101418143101420099E067-32270
chr10101490910101492850E06738541
chr10101418143101420099E068-32270
chr10101490910101492850E06838541
chr10101418143101420099E069-32270
chr10101490910101492850E06938541
chr10101490910101492850E07038541
chr10101418143101420099E071-32270
chr10101490910101492850E07138541
chr10101418143101420099E072-32270
chr10101490910101492850E07238541
chr10101418143101420099E073-32270
chr10101490910101492850E07338541
chr10101418143101420099E074-32270
chr10101490910101492850E07438541
chr10101418143101420099E081-32270
chr10101490910101492850E08138541
chr10101418143101420099E082-32270
chr10101490910101492850E08238541