rs7250285

Homo sapiens
C>T
ZNF492 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0188 (5618/29878,GnomAD)
T=0234 (6821/29118,TOPMED)
T=0213 (1065/5008,1000G)
T=0120 (462/3854,ALSPAC)
T=0121 (447/3708,TWINSUK)
chr19:22654306 (GRCh38.p7) (19p12)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.22654306C>T
GRCh37.p13 chr 19NC_000019.9:g.22837108C>T

Gene: ZNF492, zinc finger protein 492(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF492 transcriptNM_020855.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.596T=0.404
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.826T=0.174
1000GenomesEuropeSub1006C=0.864T=0.136
1000GenomesGlobalStudy-wide5008C=0.787T=0.213
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.880T=0.120
The Genome Aggregation DatabaseAfricanSub8670C=0.638T=0.362
The Genome Aggregation DatabaseAmericanSub834C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1618C=0.846T=0.154
The Genome Aggregation DatabaseEuropeSub18454C=0.888T=0.111
The Genome Aggregation DatabaseGlobalStudy-wide29878C=0.812T=0.188
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.765T=0.234
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.879T=0.121
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
rs72502850.000609alcohol dependence24277619

eQTL of rs7250285 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:22837108ZNF492ENSG00000229676.2C>T2.1394e-319982Cerebellum
Chr19:22837108ZNF492ENSG00000229676.2C>T6.0727e-419982Cerebellar_Hemisphere

meQTL of rs7250285 in Fetal Brain

Probe ID Position Gene beta p-value
cg09314196chr19:22816508ZNF4920.09633937610843279.4992e-31

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 )
chr192280414422804194E068-32914
chr192280727522807315E068-29793

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr192280622722806451E067-30657
chr192280651322806574E067-30534
chr192281644422816536E067-20572
chr192281668422816741E067-20367
chr192281677622817417E067-19691
chr192281742722817548E067-19560
chr192280622722806451E068-30657
chr192280651322806574E068-30534
chr192281644422816536E068-20572
chr192281668422816741E068-20367
chr192281677622817417E068-19691
chr192281742722817548E068-19560
chr192281770722817797E068-19311
chr192280622722806451E069-30657
chr192280651322806574E069-30534
chr192281644422816536E069-20572
chr192281668422816741E069-20367
chr192281677622817417E069-19691
chr192281742722817548E069-19560
chr192281644422816536E070-20572
chr192281668422816741E070-20367
chr192281677622817417E070-19691
chr192281742722817548E070-19560
chr192281770722817797E070-19311
chr192280622722806451E071-30657
chr192280651322806574E071-30534
chr192281644422816536E071-20572
chr192281668422816741E071-20367
chr192281677622817417E071-19691
chr192281742722817548E071-19560
chr192281644422816536E072-20572
chr192281668422816741E072-20367
chr192281677622817417E072-19691
chr192281742722817548E072-19560
chr192280651322806574E073-30534
chr192281668422816741E073-20367
chr192281677622817417E073-19691
chr192281742722817548E073-19560
chr192281677622817417E074-19691
chr192281742722817548E074-19560
chr192281644422816536E081-20572
chr192281668422816741E081-20367
chr192281677622817417E081-19691
chr192281742722817548E081-19560
chr192281644422816536E082-20572
chr192281668422816741E082-20367
chr192281677622817417E082-19691
chr192281742722817548E082-19560
chr192281770722817797E082-19311