rs256596

Homo sapiens
C>A
C16orf97 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0180 (5378/29868,GnomAD)
A=0161 (4715/29118,TOPMED)
A=0159 (797/5008,1000G)
A=0240 (924/3854,ALSPAC)
A=0237 (877/3708,TWINSUK)
chr16:52029000 (GRCh38.p7) (16q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.52029000C>A
GRCh37.p13 chr 16NC_000016.9:g.52062912C>A

Gene: C16orf97, chromosome 16 open reading frame 97(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C16orf97 transcriptNM_001242473.1:c.N/AIntron Variant
C16orf97 transcript variant X2XM_011523081.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.907A=0.093
1000GenomesAmericanSub694C=0.790A=0.210
1000GenomesEast AsianSub1008C=0.887A=0.113
1000GenomesEuropeSub1006C=0.774A=0.226
1000GenomesGlobalStudy-wide5008C=0.841A=0.159
1000GenomesSouth AsianSub978C=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.760A=0.240
The Genome Aggregation DatabaseAfricanSub8700C=0.895A=0.105
The Genome Aggregation DatabaseAmericanSub836C=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1604C=0.874A=0.126
The Genome Aggregation DatabaseEuropeSub18428C=0.782A=0.217
The Genome Aggregation DatabaseGlobalStudy-wide29868C=0.819A=0.180
The Genome Aggregation DatabaseOtherSub300C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.838A=0.161
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.763A=0.237
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
rs2565969.7E-05alcohol dependence24277619

eQTL of rs256596 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 rs256596 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 )
chr165201323652013316E067-49596
chr165201343552013497E067-49415
chr165201356252013757E067-49155
chr165201395452014004E067-48908
chr165201413152014243E067-48669
chr165201428452014334E067-48578
chr165201554652015590E067-47322
chr165201644852016570E067-46342
chr165208576452086022E06722852
chr165210192352102024E06739011
chr165210230252102953E06739390
chr165210296652103043E06740054
chr165210362352104187E06740711
chr165201323652013316E068-49596
chr165201343552013497E068-49415
chr165201356252013757E068-49155
chr165201395452014004E068-48908
chr165201413152014243E068-48669
chr165210083952101427E06837927
chr165210192352102024E06839011
chr165210230252102953E06839390
chr165201323652013316E069-49596
chr165201343552013497E069-49415
chr165201356252013757E069-49155
chr165201395452014004E069-48908
chr165201413152014243E069-48669
chr165201428452014334E069-48578
chr165201644852016570E069-46342
chr165208576452086022E06922852
chr165210083952101427E06937927
chr165210192352102024E06939011
chr165210362352104187E06940711
chr165211023452110298E06947322
chr165211032152111014E06947409
chr165211153052111920E06948618
chr165211204252112096E06949130
chr165201644852016570E070-46342
chr165202817352028419E070-34493
chr165202842052028900E070-34012
chr165202890352029052E070-33860
chr165202924152029295E070-33617
chr165210230252102953E07039390
chr165210296652103043E07040054
chr165210362352104187E07040711
chr165210435852104559E07041446
chr165211032152111014E07047409
chr165201323652013316E071-49596
chr165201343552013497E071-49415
chr165201356252013757E071-49155
chr165201395452014004E071-48908
chr165201413152014243E071-48669
chr165201428452014334E071-48578
chr165201644852016570E071-46342
chr165201661352016951E071-45961
chr165208576452086022E07122852
chr165210192352102024E07139011
chr165210230252102953E07139390
chr165210296652103043E07140054
chr165210362352104187E07140711
chr165211009652110146E07147184
chr165211023452110298E07147322
chr165201323652013316E072-49596
chr165201343552013497E072-49415
chr165201356252013757E072-49155
chr165201395452014004E072-48908
chr165201413152014243E072-48669
chr165201428452014334E072-48578
chr165201563952015960E072-46952
chr165201644852016570E072-46342
chr165208428852084756E07221376
chr165208576452086022E07222852
chr165210083952101427E07237927
chr165210192352102024E07239011
chr165210230252102953E07239390
chr165210362352104187E07240711
chr165201323652013316E073-49596
chr165201343552013497E073-49415
chr165201395452014004E073-48908
chr165210230252102953E07339390
chr165210296652103043E07340054
chr165201323652013316E074-49596
chr165201343552013497E074-49415
chr165201356252013757E074-49155
chr165201395452014004E074-48908
chr165201413152014243E074-48669
chr165201563952015960E074-46952
chr165201644852016570E074-46342
chr165208576452086022E07422852
chr165210083952101427E07437927
chr165210192352102024E07439011
chr165210230252102953E07439390
chr165210296652103043E07440054
chr165210362352104187E07440711
chr165211023452110298E07447322
chr165211032152111014E07447409
chr165202817352028419E082-34493
chr165203034552030934E082-31978