rs11666432

Homo sapiens
C>T
ZNF284 : 5 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0140 (4198/29952,GnomAD)
C==0128 (3752/29118,TOPMED)
C==0198 (992/5008,1000G)
C==0121 (466/3854,ALSPAC)
C==0126 (469/3708,TWINSUK)
chr19:44072149 (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.44072149C>T
GRCh37.p13 chr 19NC_000019.9:g.44576302C>T

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

Molecule type Change Amino acid[Codon] SO Term
ZNF284 transcriptNM_001037813.2:c.N/A5 Prime UTR Variant
ZNF284 transcript variant X1XM_011526908.2:c.N/A5 Prime UTR Variant
ZNF284 transcript variant X2XM_011526907.2:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.083T=0.917
1000GenomesAmericanSub694C=0.270T=0.730
1000GenomesEast AsianSub1008C=0.436T=0.564
1000GenomesEuropeSub1006C=0.107T=0.893
1000GenomesGlobalStudy-wide5008C=0.198T=0.802
1000GenomesSouth AsianSub978C=0.150T=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.121T=0.879
The Genome Aggregation DatabaseAfricanSub8720C=0.096T=0.904
The Genome Aggregation DatabaseAmericanSub834C=0.290T=0.710
The Genome Aggregation DatabaseEast AsianSub1612C=0.447T=0.553
The Genome Aggregation DatabaseEuropeSub18484C=0.127T=0.872
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.140T=0.859
The Genome Aggregation DatabaseOtherSub302C=0.180T=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.128T=0.871
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.126T=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
rs116664320.000204alcohol consumption23743675

eQTL of rs11666432 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44576302ZNF230ENSG00000159882.8C>T4.7704e-369202Anterior_cingulate_cortex

meQTL of rs11666432 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 )
chr194455748644557536E067-18766
chr194455748644557536E068-18766
chr194461888344619034E06842581
chr194460014844600194E06923846
chr194455793344557994E070-18308
chr194460014844600194E07023846
chr194461888344619034E07042581
chr194461903744619091E07042735
chr194461912544619165E07042823
chr194461888344619034E07142581
chr194455748644557536E081-18766
chr194455748644557536E082-18766
chr194460081644600930E08224514







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194452889444530101E067-46201
chr194455479344554904E067-21398
chr194455494844556685E067-19617
chr194455673144556943E067-19359
chr194457541944575610E067-692
chr194457564244577153E0670
chr194459804744599722E06721745
chr194461592544616789E06739623
chr194461680644618482E06740504
chr194452889444530101E068-46201
chr194455494844556685E068-19617
chr194455673144556943E068-19359
chr194457541944575610E068-692
chr194457564244577153E0680
chr194459781244597885E06821510
chr194459793544597989E06821633
chr194459804744599722E06821745
chr194461578744615827E06839485
chr194461592544616789E06839623
chr194461680644618482E06840504
chr194452889444530101E069-46201
chr194455494844556685E069-19617
chr194455673144556943E069-19359
chr194457541944575610E069-692
chr194457564244577153E0690
chr194459804744599722E06921745
chr194461578744615827E06939485
chr194461592544616789E06939623
chr194461680644618482E06940504
chr194452889444530101E070-46201
chr194455494844556685E070-19617
chr194455673144556943E070-19359
chr194457541944575610E070-692
chr194457564244577153E0700
chr194459804744599722E07021745
chr194461592544616789E07039623
chr194461680644618482E07040504
chr194452889444530101E071-46201
chr194455494844556685E071-19617
chr194455673144556943E071-19359
chr194457541944575610E071-692
chr194457564244577153E0710
chr194459804744599722E07121745
chr194461578744615827E07139485
chr194461592544616789E07139623
chr194461680644618482E07140504
chr194452889444530101E072-46201
chr194455494844556685E072-19617
chr194455673144556943E072-19359
chr194457541944575610E072-692
chr194457564244577153E0720
chr194459804744599722E07221745
chr194461592544616789E07239623
chr194461680644618482E07240504
chr194452889444530101E073-46201
chr194455494844556685E073-19617
chr194455673144556943E073-19359
chr194457541944575610E073-692
chr194457564244577153E0730
chr194459804744599722E07321745
chr194461592544616789E07339623
chr194461680644618482E07340504
chr194452889444530101E074-46201
chr194455494844556685E074-19617
chr194455673144556943E074-19359
chr194457541944575610E074-692
chr194457564244577153E0740
chr194459804744599722E07421745
chr194461592544616789E07439623
chr194461680644618482E07440504
chr194452889444530101E081-46201
chr194455494844556685E081-19617
chr194455673144556943E081-19359
chr194457541944575610E081-692
chr194457564244577153E0810
chr194459804744599722E08121745
chr194461592544616789E08139623
chr194461680644618482E08140504
chr194452889444530101E082-46201
chr194455494844556685E082-19617
chr194455673144556943E082-19359
chr194457541944575610E082-692
chr194457564244577153E0820
chr194459804744599722E08221745
chr194461592544616789E08239623
chr194461680644618482E08240504