rs7246738

Homo sapiens
T>C
ZNF563 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0221 (6627/29956,GnomAD)
C=0239 (6965/29118,TOPMED)
C=0220 (1103/5008,1000G)
C=0171 (658/3854,ALSPAC)
C=0160 (592/3708,TWINSUK)
chr19:12324088 (GRCh38.p7) (19p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.12324088T>C
GRCh37.p13 chr 19NC_000019.9:g.12434902T>C

Gene: ZNF563, zinc finger protein 563(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF563 transcript variant 1NM_145276.2:c.N/AIntron Variant
ZNF563 transcript variant X6XM_005259750.4:c.N/AIntron Variant
ZNF563 transcript variant X7XM_005259751.3:c.N/AIntron Variant
ZNF563 transcript variant X2XM_006722650.3:c.N/AIntron Variant
ZNF563 transcript variant X5XM_006722651.3:c.N/AIntron Variant
ZNF563 transcript variant X1XM_011527698.1:c.N/AIntron Variant
ZNF563 transcript variant X4XM_011527699.2:c.N/AIntron Variant
ZNF563 transcript variant X3XM_011527700.2:c.N/AIntron Variant
ZNF563 transcript variant X7XM_017026332.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.671C=0.329
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.765C=0.235
1000GenomesEuropeSub1006T=0.830C=0.170
1000GenomesGlobalStudy-wide5008T=0.780C=0.220
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.829C=0.171
The Genome Aggregation DatabaseAfricanSub8714T=0.695C=0.305
The Genome Aggregation DatabaseAmericanSub836T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1614T=0.719C=0.281
The Genome Aggregation DatabaseEuropeSub18490T=0.818C=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29956T=0.778C=0.221
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.760C=0.239
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.840C=0.160
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs72467380.000548alcohol dependence20201924

eQTL of rs7246738 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:12434902PRKCSHENSG00000130175.5T>C6.3818e-8888793Cerebellum

meQTL of rs7246738 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 )
chr191247460812474657E06739706
chr191244515312445216E06810251
chr191240347112403514E070-31388
chr191240355012403635E070-31267
chr191244515312445216E07010251
chr191244515312445216E07110251
chr191244515312445216E07210251
chr191240335312403426E073-31476
chr191240347112403514E073-31388
chr191240355012403635E073-31267
chr191247419112474310E07339289
chr191238887112388923E074-45979
chr191238899912389059E074-45843
chr191238963512389675E074-45227
chr191238969512389735E074-45167
chr191238978512389835E074-45067
chr191239002212390072E074-44830
chr191247419112474310E07439289
chr191240347112403514E082-31388
chr191240355012403635E082-31267








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr191240434612406467E067-28435
chr191244335312445037E0678451
chr191247528812477355E06740386
chr191240434612406467E068-28435
chr191244335312445037E0688451
chr191247528812477355E06840386
chr191240434612406467E069-28435
chr191244335312445037E0698451
chr191247528812477355E06940386
chr191240434612406467E070-28435
chr191244335312445037E0708451
chr191247528812477355E07040386
chr191240434612406467E071-28435
chr191244335312445037E0718451
chr191247528812477355E07140386
chr191240434612406467E072-28435
chr191244335312445037E0728451
chr191247528812477355E07240386
chr191240434612406467E073-28435
chr191244335312445037E0738451
chr191247528812477355E07340386
chr191240434612406467E074-28435
chr191244335312445037E0748451
chr191247528812477355E07440386
chr191240434612406467E081-28435
chr191244335312445037E0818451
chr191240434612406467E082-28435
chr191244335312445037E0828451
chr191247528812477355E08240386