rs1390053

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0273 (8175/29936,GnomAD)
T=0230 (6718/29118,TOPMED)
T=0176 (883/5008,1000G)
T=0309 (1190/3854,ALSPAC)
T=0320 (1185/3708,TWINSUK)
chr8:15498946 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.15498946C>T
GRCh37.p13 chr 8NC_000008.10:g.15356455C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.871T=0.129
1000GenomesAmericanSub694C=0.760T=0.240
1000GenomesEast AsianSub1008C=0.904T=0.096
1000GenomesEuropeSub1006C=0.697T=0.303
1000GenomesGlobalStudy-wide5008C=0.824T=0.176
1000GenomesSouth AsianSub978C=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.691T=0.309
The Genome Aggregation DatabaseAfricanSub8722C=0.832T=0.168
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1620C=0.922T=0.078
The Genome Aggregation DatabaseEuropeSub18454C=0.656T=0.343
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.726T=0.273
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.769T=0.230
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.680T=0.320
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
rs13900530.00007Alcohol dependence (early age of onset)20201924
rs13900530.0000702alcoholismpha002893
rs13900530.00044alcohol dependence20201924

eQTL of rs1390053 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 rs1390053 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 )
chr81539953215399720E07043077
chr81539953215399720E08143077
chr81539974815400011E08143293
chr81540053115400665E08144076
chr81539953215399720E08243077
chr81539974815400011E08243293



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81539722615398673E06740771
chr81539722615398673E06840771
chr81539722615398673E06940771
chr81539722615398673E07040771
chr81539869315399060E07042238
chr81539722615398673E07140771
chr81539722615398673E07240771
chr81539869315399060E07242238
chr81539722615398673E07340771
chr81539722615398673E07440771
chr81539722615398673E08140771
chr81539722615398673E08240771
chr81539869315399060E08242238