rs1390052

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0273 (8186/29962,GnomAD)
C=0230 (6719/29118,TOPMED)
C=0177 (885/5008,1000G)
C=0309 (1190/3854,ALSPAC)
C=0320 (1186/3708,TWINSUK)
chr8:15498875 (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.15498875A>C
GRCh37.p13 chr 8NC_000008.10:g.15356384A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.871C=0.129
1000GenomesAmericanSub694A=0.760C=0.240
1000GenomesEast AsianSub1008A=0.904C=0.096
1000GenomesEuropeSub1006A=0.697C=0.303
1000GenomesGlobalStudy-wide5008A=0.823C=0.177
1000GenomesSouth AsianSub978A=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.691C=0.309
The Genome Aggregation DatabaseAfricanSub8720A=0.832C=0.168
The Genome Aggregation DatabaseAmericanSub836A=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1622A=0.922C=0.078
The Genome Aggregation DatabaseEuropeSub18482A=0.656C=0.343
The Genome Aggregation DatabaseGlobalStudy-wide29962A=0.726C=0.273
The Genome Aggregation DatabaseOtherSub302A=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.769C=0.230
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.680C=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
rs13900520.00008Alcohol dependence (early age of onset)20201924
rs13900520.0000802alcoholismpha002893
rs13900520.00053alcohol dependence20201924

eQTL of rs1390052 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 rs1390052 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 )
chr81539953215399720E07043148
chr81539953215399720E08143148
chr81539974815400011E08143364
chr81540053115400665E08144147
chr81539953215399720E08243148
chr81539974815400011E08243364



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81539722615398673E06740842
chr81539722615398673E06840842
chr81539722615398673E06940842
chr81539722615398673E07040842
chr81539869315399060E07042309
chr81539722615398673E07140842
chr81539722615398673E07240842
chr81539869315399060E07242309
chr81539722615398673E07340842
chr81539722615398673E07440842
chr81539722615398673E08140842
chr81539722615398673E08240842
chr81539869315399060E08242309