rs2300962

Homo sapiens
C>T
ZNF225 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0214 (6425/29926,GnomAD)
C==0247 (7197/29118,TOPMED)
C==0277 (1386/5008,1000G)
C==0115 (444/3854,ALSPAC)
C==0119 (443/3708,TWINSUK)
chr19:44116050 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
80 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44116050C>T
GRCh37.p13 chr 19NC_000019.9:g.44620203C>T

Gene: ZNF225, zinc finger protein 225(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF225 transcript variant 2NM_001321685.1:c.N/AIntron Variant
ZNF225 transcript variant 1NM_013362.3:c.N/AIntron Variant
ZNF225 transcript variant X1XM_011527285.2:c.N/AIntron Variant
ZNF225 transcript variant X2XM_011527286.2:c.N/AIntron Variant
ZNF225 transcript variant X3XM_005259223.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.367T=0.633
1000GenomesAmericanSub694C=0.270T=0.730
1000GenomesEast AsianSub1008C=0.405T=0.595
1000GenomesEuropeSub1006C=0.117T=0.883
1000GenomesGlobalStudy-wide5008C=0.277T=0.723
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.115T=0.885
The Genome Aggregation DatabaseAfricanSub8702C=0.355T=0.645
The Genome Aggregation DatabaseAmericanSub838C=0.270T=0.730
The Genome Aggregation DatabaseEast AsianSub1614C=0.399T=0.601
The Genome Aggregation DatabaseEuropeSub18470C=0.131T=0.869
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.214T=0.785
The Genome Aggregation DatabaseOtherSub302C=0.180T=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.247T=0.752
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.119T=0.881
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs23009626.61E-05alcohol consumption23743675

eQTL of rs2300962 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 rs2300962 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 )
chr194461888344619034E068-1169
chr194460014844600194E069-20009
chr194460014844600194E070-20009
chr194461888344619034E070-1169
chr194461903744619091E070-1112
chr194461912544619165E070-1038
chr194461888344619034E071-1169
chr194460081644600930E082-19273





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-44593
chr194457564244577153E067-43050
chr194459804744599722E067-20481
chr194461592544616789E067-3414
chr194461680644618482E067-1721
chr194464488144646741E06724678
chr194466849844670041E06748295
chr194457541944575610E068-44593
chr194457564244577153E068-43050
chr194459781244597885E068-22318
chr194459793544597989E068-22214
chr194459804744599722E068-20481
chr194461578744615827E068-4376
chr194461592544616789E068-3414
chr194461680644618482E068-1721
chr194464474344644803E06824540
chr194464488144646741E06824678
chr194466849844670041E06848295
chr194457541944575610E069-44593
chr194457564244577153E069-43050
chr194459804744599722E069-20481
chr194461578744615827E069-4376
chr194461592544616789E069-3414
chr194461680644618482E069-1721
chr194464488144646741E06924678
chr194466849844670041E06948295
chr194457541944575610E070-44593
chr194457564244577153E070-43050
chr194459804744599722E070-20481
chr194461592544616789E070-3414
chr194461680644618482E070-1721
chr194464474344644803E07024540
chr194464488144646741E07024678
chr194466849844670041E07048295
chr194457541944575610E071-44593
chr194457564244577153E071-43050
chr194459804744599722E071-20481
chr194461578744615827E071-4376
chr194461592544616789E071-3414
chr194461680644618482E071-1721
chr194464474344644803E07124540
chr194464488144646741E07124678
chr194466849844670041E07148295
chr194457541944575610E072-44593
chr194457564244577153E072-43050
chr194459804744599722E072-20481
chr194461592544616789E072-3414
chr194461680644618482E072-1721
chr194464474344644803E07224540
chr194464488144646741E07224678
chr194466849844670041E07248295
chr194457541944575610E073-44593
chr194457564244577153E073-43050
chr194459804744599722E073-20481
chr194461592544616789E073-3414
chr194461680644618482E073-1721
chr194464488144646741E07324678
chr194466849844670041E07348295
chr194457541944575610E074-44593
chr194457564244577153E074-43050
chr194459804744599722E074-20481
chr194461592544616789E074-3414
chr194461680644618482E074-1721
chr194464488144646741E07424678
chr194466849844670041E07448295
chr194457541944575610E081-44593
chr194457564244577153E081-43050
chr194459804744599722E081-20481
chr194461592544616789E081-3414
chr194461680644618482E081-1721
chr194464488144646741E08124678
chr194466849844670041E08148295
chr194457541944575610E082-44593
chr194457564244577153E082-43050
chr194459804744599722E082-20481
chr194461592544616789E082-3414
chr194461680644618482E082-1721
chr194464474344644803E08224540
chr194464488144646741E08224678
chr194466849844670041E08248295