rs7251890

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0261 (7834/29916,GnomAD)
C=0252 (7343/29118,TOPMED)
C=0206 (1034/5008,1000G)
C=0236 (908/3854,ALSPAC)
C=0234 (866/3708,TWINSUK)
chr19:15961227 (GRCh38.p7) (19p13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.15961227A>C
GRCh37.p13 chr 19NC_000019.9:g.16072037A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.661C=0.339
1000GenomesAmericanSub694A=0.830C=0.170
1000GenomesEast AsianSub1008A=0.948C=0.052
1000GenomesEuropeSub1006A=0.737C=0.263
1000GenomesGlobalStudy-wide5008A=0.794C=0.206
1000GenomesSouth AsianSub978A=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.764C=0.236
The Genome Aggregation DatabaseAfricanSub8704A=0.691C=0.309
The Genome Aggregation DatabaseAmericanSub838A=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1618A=0.918C=0.082
The Genome Aggregation DatabaseEuropeSub18458A=0.739C=0.260
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.738C=0.261
The Genome Aggregation DatabaseOtherSub298A=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.747C=0.252
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.766C=0.234
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
rs72518900.000626alcohol dependence24277619

eQTL of rs7251890 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:16072037CYP4F11ENSG00000171903.12A>C5.4998e-526360Cerebellum

meQTL of rs7251890 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 )
chr191604163716041689E067-30348
chr191604170716041777E067-30260
chr191604530716046252E067-25785
chr191604530716046252E069-25785
chr191611366916113781E06941632
chr191604530716046252E071-25785
chr191604530716046252E072-25785
chr191604163716041689E073-30348
chr191604170716041777E073-30260
chr191604163716041689E074-30348
chr191604170716041777E074-30260
chr191604530716046252E074-25785
chr191608340616083599E08111369







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191604481116044861E068-27176
chr191611262416113302E06840587
chr191611262416113302E06940587
chr191602244116022663E070-49374
chr191602276116022912E070-49125
chr191611262416113302E07140587
chr191611262416113302E07240587
chr191604481116044861E073-27176
chr191611262416113302E07340587
chr191604481116044861E074-27176
chr191611262416113302E07440587
chr191602244116022663E082-49374
chr191602276116022912E082-49125