rs13249189

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0121 (3633/29950,GnomAD)
T=0130 (3807/29118,TOPMED)
T=0166 (829/5008,1000G)
T=0060 (231/3854,ALSPAC)
T=0048 (179/3708,TWINSUK)
chr8:100801674 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100801674C>T
GRCh37.p13 chr 8NC_000008.10:g.101813902C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.787T=0.213
1000GenomesAmericanSub694C=0.800T=0.200
1000GenomesEast AsianSub1008C=0.712T=0.288
1000GenomesEuropeSub1006C=0.948T=0.052
1000GenomesGlobalStudy-wide5008C=0.834T=0.166
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8712C=0.783T=0.217
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1606C=0.686T=0.314
The Genome Aggregation DatabaseEuropeSub18492C=0.942T=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.878T=0.121
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.869T=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.952T=0.048
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs132491899.1E-05alcohol consumption23743675

eQTL of rs13249189 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 rs13249189 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 )
chr8101773554101775046E068-38856
chr8101847470101848214E06833568
chr8101764400101764498E071-49404
chr8101764560101764751E071-49151
chr8101764770101764823E071-49079
chr8101803597101803661E072-10241
chr8101803758101804338E074-9564
chr8101804391101804510E074-9392
chr8101847470101848214E07433568
chr8101848259101848339E07434357
chr8101859230101859295E07445328
chr8101775773101775823E081-38079
chr8101775832101775882E081-38020
chr8101775951101776079E081-37823
chr8101803597101803661E081-10241
chr8101803758101804338E081-9564
chr8101804391101804510E081-9392
chr8101851627101851825E08137725
chr8101851845101851917E08137943
chr8101775334101775644E082-38258