rs947386

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0283 (8467/29922,GnomAD)
T=0292 (8515/29118,TOPMED)
T=0410 (2051/5008,1000G)
T=0219 (843/3854,ALSPAC)
T=0217 (804/3708,TWINSUK)
chr1:94651601 (GRCh38.p7) (1p21.3)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.94651601C>T
GRCh37.p13 chr 1NC_000001.10:g.95117157C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.580T=0.420
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.341T=0.659
1000GenomesEuropeSub1006C=0.804T=0.196
1000GenomesGlobalStudy-wide5008C=0.590T=0.410
1000GenomesSouth AsianSub978C=0.640T=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.781T=0.219
The Genome Aggregation DatabaseAfricanSub8706C=0.625T=0.375
The Genome Aggregation DatabaseAmericanSub834C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1612C=0.369T=0.631
The Genome Aggregation DatabaseEuropeSub18468C=0.796T=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.717T=0.283
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.707T=0.292
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.783T=0.217
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs9473865.68E-05alcohol and nictotine co-dependence20158304

eQTL of rs947386 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 rs947386 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 )
chr19506753295067592E068-49565