rs12097456

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0442 (13231/29876,GnomAD)
T=0411 (11971/29118,TOPMED)
T=0304 (1521/5008,1000G)
C==0376 (1449/3854,ALSPAC)
C==0403 (1493/3708,TWINSUK)
chr1:68237404 (GRCh38.p7) (1p31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.68237404C>T
GRCh37.p13 chr 1NC_000001.10:g.68703087C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.828T=0.172
1000GenomesAmericanSub694C=0.640T=0.360
1000GenomesEast AsianSub1008C=0.897T=0.103
1000GenomesEuropeSub1006C=0.412T=0.588
1000GenomesGlobalStudy-wide5008C=0.696T=0.304
1000GenomesSouth AsianSub978C=0.640T=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.376T=0.624
The Genome Aggregation DatabaseAfricanSub8688C=0.779T=0.221
The Genome Aggregation DatabaseAmericanSub836C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1616C=0.894T=0.106
The Genome Aggregation DatabaseEuropeSub18434C=0.419T=0.580
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.557T=0.442
The Genome Aggregation DatabaseOtherSub302C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.588T=0.411
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.403T=0.597
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs120974560.000988alcohol dependence24277619

eQTL of rs12097456 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 rs12097456 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 )
chr16867942868680027E067-23060
chr16867042168670498E068-32589
chr16867078568670919E068-32168
chr16867942868680027E068-23060
chr16868035968680981E068-22106
chr16869014868690340E068-12747
chr16865395168654015E069-49072
chr16865405268654212E069-48875
chr16865426168654717E069-48370
chr16866764568667907E069-35180
chr16866930968669416E069-33671
chr16867942868680027E069-23060
chr16868824268688292E069-14795
chr16868830968688359E069-14728
chr16867232668672410E070-30677
chr16868102268681194E070-21893
chr16868275068683313E070-19774
chr16868338368683707E070-19380
chr16868412668684543E070-18544
chr16869925768699348E070-3739
chr16867775768677980E071-25107
chr16867942868680027E072-23060
chr16865380868653950E073-49137
chr16865395168654015E073-49072
chr16865405268654212E073-48875
chr16866764568667907E073-35180
chr16867942868680027E073-23060
chr16868188768682453E073-20634
chr16866340668663493E074-39594
chr16867942868680027E074-23060
chr16868035968680981E074-22106
chr16868275068683313E074-19774
chr16868338368683707E074-19380
chr16868412668684543E074-18544
chr16869160668691758E074-11329
chr16866712368667274E081-35813
chr16866732568667488E081-35599
chr16866764568667907E081-35180
chr16867775768677980E081-25107
chr16870286668702975E081-112









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr16869540068695527E067-7560
chr16869561668698896E067-4191
chr16869540068695527E068-7560
chr16869561668698896E068-4191
chr16869540068695527E069-7560
chr16869561668698896E069-4191
chr16869540068695527E070-7560
chr16869561668698896E070-4191
chr16869561668698896E071-4191
chr16869540068695527E072-7560
chr16869561668698896E072-4191
chr16869540068695527E073-7560
chr16869561668698896E073-4191
chr16869561668698896E074-4191
chr16869540068695527E081-7560