rs5770871

Homo sapiens
G>A
LOC102724608 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0101 (3030/29978,GnomAD)
A=0094 (2741/29114,TOPMED)
A=0159 (795/5008,1000G)
A=0112 (430/3854,ALSPAC)
A=0104 (384/3708,TWINSUK)
chr22:50539833 (GRCh38.p7) (22q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
40 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.50539833G>A
GRCh37.p13 chr 22NC_000022.10:g.50978262G>A

Gene: LOC102724608, uncharacterized LOC102724608(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC102724608 transcriptXR_430484.3:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.964A=0.036
1000GenomesAmericanSub694G=0.840A=0.160
1000GenomesEast AsianSub1008G=0.679A=0.321
1000GenomesEuropeSub1006G=0.917A=0.083
1000GenomesGlobalStudy-wide5008G=0.841A=0.159
1000GenomesSouth AsianSub978G=0.770A=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.888A=0.112
The Genome Aggregation DatabaseAfricanSub8732G=0.949A=0.051
The Genome Aggregation DatabaseAmericanSub838G=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1610G=0.746A=0.254
The Genome Aggregation DatabaseEuropeSub18496G=0.891A=0.108
The Genome Aggregation DatabaseGlobalStudy-wide29978G=0.898A=0.101
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.905A=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.896A=0.104
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
rs57708710.000514alcohol consumption (maxi-drinks)24277619

eQTL of rs5770871 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr22:50978262CPT1BENSG00000205560.8G>A6.5499e-10-38834Cortex

meQTL of rs5770871 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 )
chr225100244351002550E06724181
chr225100294351003084E06724681
chr225101678351017420E06738521
chr225101744051017669E06739178
chr225101782051018055E06739558
chr225101820351018253E06739941
chr225101834451018403E06740082
chr225101849051018551E06740228
chr225101966951019806E06741407
chr225097171550971850E068-6412
chr225101678351017420E06838521
chr225101744051017669E06839178
chr225101966951019806E06841407
chr225093662550937431E069-40831
chr225100244351002550E06924181
chr225100294351003084E06924681
chr225101678351017420E06938521
chr225101744051017669E06939178
chr225101782051018055E06939558
chr225094383350944034E070-34228
chr225094406450944143E070-34119
chr225094809150948145E070-30117
chr225094826650948327E070-29935
chr225094839350948474E070-29788
chr225094862250948777E070-29485
chr225098250550983845E0704243
chr225100244351002550E07024181
chr225101966951019806E07041407
chr225102243451022515E07044172
chr225094433050944593E071-33669
chr225098501950985073E0716757
chr225098516850985250E0716906
chr225100244351002550E07124181
chr225101279451012849E07134532
chr225101293651012995E07134674
chr225101655151016601E07138289
chr225101678351017420E07138521
chr225101744051017669E07139178
chr225101782051018055E07139558
chr225101820351018253E07139941
chr225101966951019806E07141407
chr225102243451022515E07144172
chr225094809150948145E072-30117
chr225101678351017420E07238521
chr225101744051017669E07239178
chr225101782051018055E07239558
chr225093662550937431E073-40831
chr225094433050944593E073-33669
chr225094809150948145E073-30117
chr225101678351017420E07338521
chr225101744051017669E07339178
chr225101966951019806E07341407
chr225102243451022515E07344172
chr225100244351002550E07424181
chr225100294351003084E07424681
chr225101279451012849E07434532
chr225101293651012995E07434674
chr225101678351017420E07438521
chr225101744051017669E07439178
chr225101782051018055E07439558
chr225101820351018253E07439941
chr225101834451018403E07440082
chr225101966951019806E07441407
chr225094809150948145E081-30117
chr225100244351002550E08124181
chr225101966951019806E08141407
chr225102243451022515E08144172
chr225094809150948145E082-30117










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr225094460950947716E067-30546
chr225096202950966534E067-11728
chr225100102751002242E06722765
chr225102023351022432E06741971
chr225094460950947716E068-30546
chr225096202950966534E068-11728
chr225096656650971237E068-7025
chr225100102751002242E06822765
chr225102023351022432E06841971
chr225094460950947716E069-30546
chr225096202950966534E069-11728
chr225100102751002242E06922765
chr225102023351022432E06941971
chr225094460950947716E070-30546
chr225096202950966534E070-11728
chr225100102751002242E07022765
chr225102023351022432E07041971
chr225094460950947716E071-30546
chr225096202950966534E071-11728
chr225100102751002242E07122765
chr225102023351022432E07141971
chr225094460950947716E072-30546
chr225096202950966534E072-11728
chr225100102751002242E07222765
chr225102023351022432E07241971
chr225094460950947716E073-30546
chr225096202950966534E073-11728
chr225100102751002242E07322765
chr225102023351022432E07341971
chr225094460950947716E074-30546
chr225096202950966534E074-11728
chr225096656650971237E074-7025
chr225100102751002242E07422765
chr225102023351022432E07441971
chr225100102751002242E08122765
chr225102023351022432E08141971
chr225094460950947716E082-30546
chr225096202950966534E082-11728
chr225100102751002242E08222765
chr225102023351022432E08241971