rs9646633

Homo sapiens
A>G
ZNF284 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0184 (5524/29954,GnomAD)
A==0198 (5777/29118,TOPMED)
A==0252 (1263/5008,1000G)
A==0120 (464/3854,ALSPAC)
A==0126 (468/3708,TWINSUK)
chr19:44070874 (GRCh38.p7) (19q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
86 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44070874A>G
GRCh37.p13 chr 19NC_000019.9:g.44575027A>G

Gene: ZNF284, zinc finger protein 284(plus strand): 2KB Upstream Variant

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.275G=0.725
1000GenomesAmericanSub694A=0.280G=0.720
1000GenomesEast AsianSub1008A=0.435G=0.565
1000GenomesEuropeSub1006A=0.108G=0.892
1000GenomesGlobalStudy-wide5008A=0.252G=0.748
1000GenomesSouth AsianSub978A=0.160G=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.120G=0.880
The Genome Aggregation DatabaseAfricanSub8722A=0.248G=0.752
The Genome Aggregation DatabaseAmericanSub838A=0.300G=0.700
The Genome Aggregation DatabaseEast AsianSub1610A=0.447G=0.553
The Genome Aggregation DatabaseEuropeSub18482A=0.126G=0.873
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.184G=0.815
The Genome Aggregation DatabaseOtherSub302A=0.190G=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.198G=0.801
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.126G=0.874
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
rs96466330.000312alcohol consumption23743675

eQTL of rs9646633 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44575027ZNF284ENSG00000186026.6A>G1.0028e-2-1270Caudate_basal_ganglia

meQTL of rs9646633 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 )
chr194455748644557536E067-17491
chr194455748644557536E068-17491
chr194461888344619034E06843856
chr194460014844600194E06925121
chr194455793344557994E070-17033
chr194460014844600194E07025121
chr194461888344619034E07043856
chr194461903744619091E07044010
chr194461912544619165E07044098
chr194461888344619034E07143856
chr194455748644557536E081-17491
chr194455748644557536E082-17491
chr194460081644600930E08225789







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194452889444530101E067-44926
chr194455479344554904E067-20123
chr194455494844556685E067-18342
chr194455673144556943E067-18084
chr194457541944575610E067392
chr194457564244577153E067615
chr194459804744599722E06723020
chr194461592544616789E06740898
chr194461680644618482E06741779
chr194452889444530101E068-44926
chr194455494844556685E068-18342
chr194455673144556943E068-18084
chr194457541944575610E068392
chr194457564244577153E068615
chr194459781244597885E06822785
chr194459793544597989E06822908
chr194459804744599722E06823020
chr194461578744615827E06840760
chr194461592544616789E06840898
chr194461680644618482E06841779
chr194452889444530101E069-44926
chr194455494844556685E069-18342
chr194455673144556943E069-18084
chr194457541944575610E069392
chr194457564244577153E069615
chr194459804744599722E06923020
chr194461578744615827E06940760
chr194461592544616789E06940898
chr194461680644618482E06941779
chr194452889444530101E070-44926
chr194455494844556685E070-18342
chr194455673144556943E070-18084
chr194457541944575610E070392
chr194457564244577153E070615
chr194459804744599722E07023020
chr194461592544616789E07040898
chr194461680644618482E07041779
chr194452889444530101E071-44926
chr194455494844556685E071-18342
chr194455673144556943E071-18084
chr194457541944575610E071392
chr194457564244577153E071615
chr194459804744599722E07123020
chr194461578744615827E07140760
chr194461592544616789E07140898
chr194461680644618482E07141779
chr194452889444530101E072-44926
chr194455494844556685E072-18342
chr194455673144556943E072-18084
chr194457541944575610E072392
chr194457564244577153E072615
chr194459804744599722E07223020
chr194461592544616789E07240898
chr194461680644618482E07241779
chr194452889444530101E073-44926
chr194455494844556685E073-18342
chr194455673144556943E073-18084
chr194457541944575610E073392
chr194457564244577153E073615
chr194459804744599722E07323020
chr194461592544616789E07340898
chr194461680644618482E07341779
chr194452889444530101E074-44926
chr194455494844556685E074-18342
chr194455673144556943E074-18084
chr194457541944575610E074392
chr194457564244577153E074615
chr194459804744599722E07423020
chr194461592544616789E07440898
chr194461680644618482E07441779
chr194452889444530101E081-44926
chr194455494844556685E081-18342
chr194455673144556943E081-18084
chr194457541944575610E081392
chr194457564244577153E081615
chr194459804744599722E08123020
chr194461592544616789E08140898
chr194461680644618482E08141779
chr194452889444530101E082-44926
chr194455494844556685E082-18342
chr194455673144556943E082-18084
chr194457541944575610E082392
chr194457564244577153E082615
chr194459804744599722E08223020
chr194461592544616789E08240898
chr194461680644618482E08241779