rs11136864

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0184 (5505/29920,GnomAD)
C=0184 (5376/29118,TOPMED)
C=0162 (812/5008,1000G)
C=0226 (872/3854,ALSPAC)
C=0223 (826/3708,TWINSUK)
chr8:581083 (GRCh38.p7) (8p23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.581083A>C
GRCh37.p13 chr 8NC_000008.10:g.531083A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.915C=0.085
1000GenomesAmericanSub694A=0.830C=0.170
1000GenomesEast AsianSub1008A=0.885C=0.115
1000GenomesEuropeSub1006A=0.767C=0.233
1000GenomesGlobalStudy-wide5008A=0.838C=0.162
1000GenomesSouth AsianSub978A=0.760C=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.774C=0.226
The Genome Aggregation DatabaseAfricanSub8716A=0.882C=0.118
The Genome Aggregation DatabaseAmericanSub836A=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1620A=0.893C=0.107
The Genome Aggregation DatabaseEuropeSub18446A=0.780C=0.220
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.816C=0.184
The Genome Aggregation DatabaseOtherSub302A=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.815C=0.184
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.777C=0.223
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
rs111368640.000207alcohol dependence24277619

eQTL of rs11136864 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 rs11136864 in Fetal Brain

Probe ID Position Gene beta p-value
cg00837987chr8:588849-0.08140795625390675.2392e-16
cg01142096chr8:682091ERICH1-0.06868476608112441.5448e-14

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 )
chr8564865565802E06733782
chr8486737487272E068-43811
chr8487293487385E068-43698
chr8487524487646E068-43437
chr8487689487818E068-43265
chr8551870551933E06820787
chr8564865565802E06833782
chr8564865565802E06933782
chr8549565549665E07018482
chr8549836549935E07018753
chr8550024550064E07018941
chr8551584551714E07020501
chr8551747551787E07020664
chr8564865565802E07133782
chr8551747551787E07220664
chr8492022492072E073-39011
chr8550340550645E07419257
chr8550676550932E07419593
chr8564865565802E07433782
chr8565983566084E07434900
chr8566126566176E07435043
chr8496877497286E081-33797
chr8575687576336E08144604
chr8576886576943E08145803
chr8576970577161E08145887
chr8577211577278E08146128
chr8577373577469E08146290
chr8575687576336E08244604










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8493589496797E067-34286
chr8493589496797E068-34286
chr8493589496797E069-34286
chr8493589496797E070-34286
chr8493589496797E071-34286
chr8493589496797E072-34286
chr8493589496797E073-34286
chr8493589496797E074-34286
chr8493589496797E082-34286