rs4550576

Homo sapiens
A>G
ZNF284 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0142 (4235/29812,GnomAD)
A==0131 (3834/29118,TOPMED)
A==0200 (1002/5008,1000G)
A==0121 (466/3854,ALSPAC)
A==0127 (471/3708,TWINSUK)
chr19:44074294 (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.44074294A>G
GRCh37.p13 chr 19NC_000019.9:g.44578447A>G

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
1000GenomesAfricanSub1322A=0.092G=0.908
1000GenomesAmericanSub694A=0.270G=0.730
1000GenomesEast AsianSub1008A=0.435G=0.565
1000GenomesEuropeSub1006A=0.107G=0.893
1000GenomesGlobalStudy-wide5008A=0.200G=0.800
1000GenomesSouth AsianSub978A=0.150G=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.121G=0.879
The Genome Aggregation DatabaseAfricanSub8696A=0.102G=0.898
The Genome Aggregation DatabaseAmericanSub838A=0.290G=0.710
The Genome Aggregation DatabaseEast AsianSub1614A=0.446G=0.554
The Genome Aggregation DatabaseEuropeSub18362A=0.127G=0.872
The Genome Aggregation DatabaseGlobalStudy-wide29812A=0.142G=0.857
The Genome Aggregation DatabaseOtherSub302A=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.131G=0.868
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.127G=0.873
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
rs45505760.000168alcohol consumption23743675

eQTL of rs4550576 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44578447ZNF230ENSG00000159882.8A>G4.7704e-371347Anterior_cingulate_cortex

meQTL of rs4550576 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 )
chr194455748644557536E067-20911
chr194455748644557536E068-20911
chr194461888344619034E06840436
chr194460014844600194E06921701
chr194455793344557994E070-20453
chr194460014844600194E07021701
chr194461888344619034E07040436
chr194461903744619091E07040590
chr194461912544619165E07040678
chr194461888344619034E07140436
chr194455748644557536E081-20911
chr194455748644557536E082-20911
chr194460081644600930E08222369







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194452889444530101E067-48346
chr194455479344554904E067-23543
chr194455494844556685E067-21762
chr194455673144556943E067-21504
chr194457541944575610E067-2837
chr194457564244577153E067-1294
chr194459804744599722E06719600
chr194461592544616789E06737478
chr194461680644618482E06738359
chr194452889444530101E068-48346
chr194455494844556685E068-21762
chr194455673144556943E068-21504
chr194457541944575610E068-2837
chr194457564244577153E068-1294
chr194459781244597885E06819365
chr194459793544597989E06819488
chr194459804744599722E06819600
chr194461578744615827E06837340
chr194461592544616789E06837478
chr194461680644618482E06838359
chr194452889444530101E069-48346
chr194455494844556685E069-21762
chr194455673144556943E069-21504
chr194457541944575610E069-2837
chr194457564244577153E069-1294
chr194459804744599722E06919600
chr194461578744615827E06937340
chr194461592544616789E06937478
chr194461680644618482E06938359
chr194452889444530101E070-48346
chr194455494844556685E070-21762
chr194455673144556943E070-21504
chr194457541944575610E070-2837
chr194457564244577153E070-1294
chr194459804744599722E07019600
chr194461592544616789E07037478
chr194461680644618482E07038359
chr194452889444530101E071-48346
chr194455494844556685E071-21762
chr194455673144556943E071-21504
chr194457541944575610E071-2837
chr194457564244577153E071-1294
chr194459804744599722E07119600
chr194461578744615827E07137340
chr194461592544616789E07137478
chr194461680644618482E07138359
chr194452889444530101E072-48346
chr194455494844556685E072-21762
chr194455673144556943E072-21504
chr194457541944575610E072-2837
chr194457564244577153E072-1294
chr194459804744599722E07219600
chr194461592544616789E07237478
chr194461680644618482E07238359
chr194452889444530101E073-48346
chr194455494844556685E073-21762
chr194455673144556943E073-21504
chr194457541944575610E073-2837
chr194457564244577153E073-1294
chr194459804744599722E07319600
chr194461592544616789E07337478
chr194461680644618482E07338359
chr194452889444530101E074-48346
chr194455494844556685E074-21762
chr194455673144556943E074-21504
chr194457541944575610E074-2837
chr194457564244577153E074-1294
chr194459804744599722E07419600
chr194461592544616789E07437478
chr194461680644618482E07438359
chr194452889444530101E081-48346
chr194455494844556685E081-21762
chr194455673144556943E081-21504
chr194457541944575610E081-2837
chr194457564244577153E081-1294
chr194459804744599722E08119600
chr194461592544616789E08137478
chr194461680644618482E08138359
chr194452889444530101E082-48346
chr194455494844556685E082-21762
chr194455673144556943E082-21504
chr194457541944575610E082-2837
chr194457564244577153E082-1294
chr194459804744599722E08219600
chr194461592544616789E08237478
chr194461680644618482E08238359