rs57895932

Homo sapiens
T>C
ZNF284 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0215 (6454/29902,GnomAD)
T==0245 (7144/29118,TOPMED)
T==0300 (1500/5008,1000G)
T==0125 (482/3854,ALSPAC)
T==0129 (480/3708,TWINSUK)
chr19:44076605 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
76 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44076605T>C
GRCh37.p13 chr 19NC_000019.9:g.44580758T>C

Gene: ZNF284, zinc finger protein 284(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF284 transcriptNM_001037813.2:c.N/AIntron Variant
ZNF284 transcript variant X2XM_011526907.2:c.N/AIntron Variant
ZNF284 transcript variant X1XM_011526908.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.371C=0.629
1000GenomesAmericanSub694T=0.300C=0.700
1000GenomesEast AsianSub1008T=0.437C=0.563
1000GenomesEuropeSub1006T=0.113C=0.887
1000GenomesGlobalStudy-wide5008T=0.300C=0.700
1000GenomesSouth AsianSub978T=0.250C=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.125C=0.875
The Genome Aggregation DatabaseAfricanSub8694T=0.349C=0.651
The Genome Aggregation DatabaseAmericanSub836T=0.310C=0.690
The Genome Aggregation DatabaseEast AsianSub1608T=0.446C=0.554
The Genome Aggregation DatabaseEuropeSub18462T=0.129C=0.870
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.215C=0.784
The Genome Aggregation DatabaseOtherSub302T=0.180C=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.245C=0.754
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.129C=0.871
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
rs578959320.000173alcohol consumption23743675

eQTL of rs57895932 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44580758ZNF284ENSG00000186026.6T>C1.0028e-24461Caudate_basal_ganglia

meQTL of rs57895932 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 )
chr194455748644557536E067-23222
chr194455748644557536E068-23222
chr194461888344619034E06838125
chr194460014844600194E06919390
chr194455793344557994E070-22764
chr194460014844600194E07019390
chr194461888344619034E07038125
chr194461903744619091E07038279
chr194461912544619165E07038367
chr194461888344619034E07138125
chr194455748644557536E081-23222
chr194455748644557536E082-23222
chr194460081644600930E08220058







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-25854
chr194455494844556685E067-24073
chr194455673144556943E067-23815
chr194457541944575610E067-5148
chr194457564244577153E067-3605
chr194459804744599722E06717289
chr194461592544616789E06735167
chr194461680644618482E06736048
chr194455494844556685E068-24073
chr194455673144556943E068-23815
chr194457541944575610E068-5148
chr194457564244577153E068-3605
chr194459781244597885E06817054
chr194459793544597989E06817177
chr194459804744599722E06817289
chr194461578744615827E06835029
chr194461592544616789E06835167
chr194461680644618482E06836048
chr194455494844556685E069-24073
chr194455673144556943E069-23815
chr194457541944575610E069-5148
chr194457564244577153E069-3605
chr194459804744599722E06917289
chr194461578744615827E06935029
chr194461592544616789E06935167
chr194461680644618482E06936048
chr194455494844556685E070-24073
chr194455673144556943E070-23815
chr194457541944575610E070-5148
chr194457564244577153E070-3605
chr194459804744599722E07017289
chr194461592544616789E07035167
chr194461680644618482E07036048
chr194455494844556685E071-24073
chr194455673144556943E071-23815
chr194457541944575610E071-5148
chr194457564244577153E071-3605
chr194459804744599722E07117289
chr194461578744615827E07135029
chr194461592544616789E07135167
chr194461680644618482E07136048
chr194455494844556685E072-24073
chr194455673144556943E072-23815
chr194457541944575610E072-5148
chr194457564244577153E072-3605
chr194459804744599722E07217289
chr194461592544616789E07235167
chr194461680644618482E07236048
chr194455494844556685E073-24073
chr194455673144556943E073-23815
chr194457541944575610E073-5148
chr194457564244577153E073-3605
chr194459804744599722E07317289
chr194461592544616789E07335167
chr194461680644618482E07336048
chr194455494844556685E074-24073
chr194455673144556943E074-23815
chr194457541944575610E074-5148
chr194457564244577153E074-3605
chr194459804744599722E07417289
chr194461592544616789E07435167
chr194461680644618482E07436048
chr194455494844556685E081-24073
chr194455673144556943E081-23815
chr194457541944575610E081-5148
chr194457564244577153E081-3605
chr194459804744599722E08117289
chr194461592544616789E08135167
chr194461680644618482E08136048
chr194455494844556685E082-24073
chr194455673144556943E082-23815
chr194457541944575610E082-5148
chr194457564244577153E082-3605
chr194459804744599722E08217289
chr194461592544616789E08235167
chr194461680644618482E08236048