rs56353321

Homo sapiens
T>C
ZNF284 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0355 (10630/29906,GnomAD)
T==0426 (12426/29118,TOPMED)
T==0462 (2312/5008,1000G)
T==0161 (621/3854,ALSPAC)
T==0162 (599/3708,TWINSUK)
chr19:44088250 (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.44088250T>C
GRCh37.p13 chr 19NC_000019.9:g.44592403T>C

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

Molecule type Change Amino acid[Codon] SO Term
ZNF284 transcriptNM_001037813.2:c.N/AGenic Downstream Transcript Variant
ZNF284 transcript variant X1XM_011526908.2:c.N/A3 Prime UTR Variant
ZNF284 transcript variant X2XM_011526907.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.750C=0.250
1000GenomesAmericanSub694T=0.490C=0.510
1000GenomesEast AsianSub1008T=0.479C=0.521
1000GenomesEuropeSub1006T=0.188C=0.812
1000GenomesGlobalStudy-wide5008T=0.462C=0.538
1000GenomesSouth AsianSub978T=0.310C=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.161C=0.839
The Genome Aggregation DatabaseAfricanSub8700T=0.665C=0.335
The Genome Aggregation DatabaseAmericanSub836T=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1614T=0.460C=0.540
The Genome Aggregation DatabaseEuropeSub18454T=0.196C=0.804
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.355C=0.644
The Genome Aggregation DatabaseOtherSub302T=0.230C=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.426C=0.573
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.162C=0.838
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
rs563533216.07E-05alcohol consumption23743675

eQTL of rs56353321 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44592403ZNF284ENSG00000186026.6T>C6.4241e-416106Cerebellum
Chr19:44592403ZNF284ENSG00000186026.6T>C8.0274e-416106Cerebellar_Hemisphere

meQTL of rs56353321 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 )
chr194455748644557536E067-34867
chr194455748644557536E068-34867
chr194461888344619034E06826480
chr194460014844600194E0697745
chr194455793344557994E070-34409
chr194460014844600194E0707745
chr194461888344619034E07026480
chr194461903744619091E07026634
chr194461912544619165E07026722
chr194461888344619034E07126480
chr194455748644557536E081-34867
chr194455748644557536E082-34867
chr194460081644600930E0828413







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-37499
chr194455494844556685E067-35718
chr194455673144556943E067-35460
chr194457541944575610E067-16793
chr194457564244577153E067-15250
chr194459804744599722E0675644
chr194461592544616789E06723522
chr194461680644618482E06724403
chr194455494844556685E068-35718
chr194455673144556943E068-35460
chr194457541944575610E068-16793
chr194457564244577153E068-15250
chr194459781244597885E0685409
chr194459793544597989E0685532
chr194459804744599722E0685644
chr194461578744615827E06823384
chr194461592544616789E06823522
chr194461680644618482E06824403
chr194455494844556685E069-35718
chr194455673144556943E069-35460
chr194457541944575610E069-16793
chr194457564244577153E069-15250
chr194459804744599722E0695644
chr194461578744615827E06923384
chr194461592544616789E06923522
chr194461680644618482E06924403
chr194455494844556685E070-35718
chr194455673144556943E070-35460
chr194457541944575610E070-16793
chr194457564244577153E070-15250
chr194459804744599722E0705644
chr194461592544616789E07023522
chr194461680644618482E07024403
chr194455494844556685E071-35718
chr194455673144556943E071-35460
chr194457541944575610E071-16793
chr194457564244577153E071-15250
chr194459804744599722E0715644
chr194461578744615827E07123384
chr194461592544616789E07123522
chr194461680644618482E07124403
chr194455494844556685E072-35718
chr194455673144556943E072-35460
chr194457541944575610E072-16793
chr194457564244577153E072-15250
chr194459804744599722E0725644
chr194461592544616789E07223522
chr194461680644618482E07224403
chr194455494844556685E073-35718
chr194455673144556943E073-35460
chr194457541944575610E073-16793
chr194457564244577153E073-15250
chr194459804744599722E0735644
chr194461592544616789E07323522
chr194461680644618482E07324403
chr194455494844556685E074-35718
chr194455673144556943E074-35460
chr194457541944575610E074-16793
chr194457564244577153E074-15250
chr194459804744599722E0745644
chr194461592544616789E07423522
chr194461680644618482E07424403
chr194455494844556685E081-35718
chr194455673144556943E081-35460
chr194457541944575610E081-16793
chr194457564244577153E081-15250
chr194459804744599722E0815644
chr194461592544616789E08123522
chr194461680644618482E08124403
chr194455494844556685E082-35718
chr194455673144556943E082-35460
chr194457541944575610E082-16793
chr194457564244577153E082-15250
chr194459804744599722E0825644
chr194461592544616789E08223522
chr194461680644618482E08224403