rs7157457

Homo sapiens
C>T
LOC105370612 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0068 (2053/29996,GnomAD)
T=0073 (2139/29118,TOPMED)
T=0061 (303/5008,1000G)
T=0051 (195/3854,ALSPAC)
T=0051 (189/3708,TWINSUK)
chr14:88179513 (GRCh38.p7) (14q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
88 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.88179513C>T
GRCh37.p13 chr 14NC_000014.8:g.88645857C>T

Gene: LOC105370612, uncharacterized LOC105370612(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370612 transcript variant X1XR_944119.1:n.N/AIntron Variant
LOC105370612 transcript variant X2XR_944120.1:n.N/AIntron Variant
LOC105370612 transcript variant X3XR_944121.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.900T=0.100
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=0.911T=0.089
1000GenomesEuropeSub1006C=0.955T=0.045
1000GenomesGlobalStudy-wide5008C=0.939T=0.061
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.949T=0.051
The Genome Aggregation DatabaseAfricanSub8732C=0.886T=0.114
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=0.899T=0.101
The Genome Aggregation DatabaseEuropeSub18504C=0.953T=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29996C=0.931T=0.068
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.926T=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.949T=0.051
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
rs71574570.000695alcohol dependence24277619

eQTL of rs7157457 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 rs7157457 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 )
chr148867626388676392E06730406
chr148867655888676637E06730701
chr148867675388676822E06730896
chr148867685788676998E06731000
chr148864615188646376E068294
chr148864681488646864E068957
chr148864709888647138E0681241
chr148867626388676392E06830406
chr148867655888676637E06830701
chr148867675388676822E06830896
chr148867685788676998E06831000
chr148864600388646055E069146
chr148864615188646376E069294
chr148865513388656555E0699276
chr148866166088661710E06915803
chr148866288588663428E06917028
chr148867597988676029E06930122
chr148867626388676392E06930406
chr148867655888676637E06930701
chr148867675388676822E06930896
chr148867685788676998E06931000
chr148865441288654462E0708555
chr148865455088654600E0708693
chr148865473688654786E0708879
chr148865492888655001E0709071
chr148865513388656555E0709276
chr148866097488661189E07015117
chr148866125188661317E07015394
chr148866166088661710E07015803
chr148866288588663428E07017028
chr148864681488646864E071957
chr148864709888647138E0711241
chr148866288588663428E07117028
chr148867597988676029E07130122
chr148867626388676392E07130406
chr148867655888676637E07130701
chr148867675388676822E07130896
chr148867685788676998E07131000
chr148864615188646376E072294
chr148864681488646864E072957
chr148864709888647138E0721241
chr148867626388676392E07230406
chr148867655888676637E07230701
chr148867675388676822E07230896
chr148867685788676998E07231000
chr148869215788692309E07246300
chr148866288588663428E07317028
chr148867597988676029E07330122
chr148867626388676392E07330406
chr148867655888676637E07330701
chr148867675388676822E07330896
chr148867685788676998E07331000
chr148865513388656555E0749276
chr148866288588663428E07417028
chr148867626388676392E07430406
chr148867655888676637E07430701
chr148867675388676822E07430896
chr148867685788676998E07431000
chr148867723188677275E07431374
chr148865513388656555E0819276
chr148866097488661189E08115117
chr148866125188661317E08115394
chr148866166088661710E08115803
chr148866186388662788E08116006
chr148866288588663428E08117028
chr148867067188670686E08124814
chr148867071688670830E08124859
chr148867484188675034E08128984
chr148867517588675237E08129318
chr148867597988676029E08130122
chr148867626388676392E08130406
chr148867655888676637E08130701
chr148865987788659931E08214020
chr148866051988660597E08214662
chr148866070688660756E08214849
chr148866097488661189E08215117
chr148866125188661317E08215394
chr148866166088661710E08215803
chr148866288588663428E08217028
chr148866368888663738E08217831
chr148866421788664294E08218360
chr148866430788664375E08218450
chr148867027088670320E08224413
chr148867047688670527E08224619
chr148867067188670686E08224814
chr148867071688670830E08224859
chr148867917188679260E08233314
chr148868511288685167E08239255










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr148867546188675886E06729604
chr148867546188675886E06829604
chr148867546188675886E07229604
chr148867546188675886E07429604