rs10839947

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0377 (11297/29918,GnomAD)
A=0343 (9993/29118,TOPMED)
A=0399 (1996/5008,1000G)
A=0379 (1459/3854,ALSPAC)
A=0375 (1390/3708,TWINSUK)
chr11:7936406 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7936406G>A
GRCh37.p13 chr 11NC_000011.9:g.7957953G>A
GRCh38.p7 chr 11 novel patch HSCHR11_1_CTG1_2NW_011332695.1:g.167400G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG5NT_187583.1:g.167907G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.708A=0.292
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.502A=0.498
1000GenomesEuropeSub1006G=0.586A=0.414
1000GenomesGlobalStudy-wide5008G=0.601A=0.399
1000GenomesSouth AsianSub978G=0.560A=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.621A=0.379
The Genome Aggregation DatabaseAfricanSub8718G=0.698A=0.302
The Genome Aggregation DatabaseAmericanSub836G=0.630A=0.370
The Genome Aggregation DatabaseEast AsianSub1612G=0.491A=0.509
The Genome Aggregation DatabaseEuropeSub18450G=0.600A=0.400
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.622A=0.377
The Genome Aggregation DatabaseOtherSub302G=0.500A=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.656A=0.343
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.625A=0.375
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs108399478.37E-05alcohol consumption23953852

eQTL of rs10839947 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 rs10839947 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 )
chr1180076118007848E06749658
chr1180076118007848E06849658
chr1180076118007848E06949658
chr1179858687986265E07027915
chr1180076118007848E07049658
chr1180072428007477E07249289
chr1180075268007574E07249573
chr1180076118007848E07249658
chr1180076118007848E07349658
chr1180076118007848E07449658
chr1179858687986265E08227915
chr1180069938007037E08249040
chr1180072428007477E08249289
chr1180075268007574E08249573
chr1180076118007848E08249658








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1179492487949467E074-8486
chr1179494767949625E074-8328