rs55876899

Homo sapiens
C>T
ZNF284 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0355 (10610/29862,GnomAD)
C==0426 (12421/29118,TOPMED)
C==0460 (2303/5008,1000G)
C==0160 (618/3854,ALSPAC)
C==0162 (601/3708,TWINSUK)
chr19:44088049 (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.44088049C>T
GRCh37.p13 chr 19NC_000019.9:g.44592202C>T

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
1000GenomesAfricanSub1322C=0.748T=0.252
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.477T=0.523
1000GenomesEuropeSub1006C=0.188T=0.812
1000GenomesGlobalStudy-wide5008C=0.460T=0.540
1000GenomesSouth AsianSub978C=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.160T=0.840
The Genome Aggregation DatabaseAfricanSub8690C=0.665T=0.335
The Genome Aggregation DatabaseAmericanSub832C=0.490T=0.510
The Genome Aggregation DatabaseEast AsianSub1614C=0.452T=0.548
The Genome Aggregation DatabaseEuropeSub18424C=0.196T=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29862C=0.355T=0.644
The Genome Aggregation DatabaseOtherSub302C=0.230T=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.426T=0.573
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.162T=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
rs558768992.47E-05alcohol consumption23743675

eQTL of rs55876899 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44592202ZNF284ENSG00000186026.6C>T6.4241e-415905Cerebellum
Chr19:44592202ZNF284ENSG00000186026.6C>T8.0274e-415905Cerebellar_Hemisphere

meQTL of rs55876899 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 )
chr194455748644557536E067-34666
chr194455748644557536E068-34666
chr194461888344619034E06826681
chr194460014844600194E0697946
chr194455793344557994E070-34208
chr194460014844600194E0707946
chr194461888344619034E07026681
chr194461903744619091E07026835
chr194461912544619165E07026923
chr194461888344619034E07126681
chr194455748644557536E081-34666
chr194455748644557536E082-34666
chr194460081644600930E0828614







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194455479344554904E067-37298
chr194455494844556685E067-35517
chr194455673144556943E067-35259
chr194457541944575610E067-16592
chr194457564244577153E067-15049
chr194459804744599722E0675845
chr194461592544616789E06723723
chr194461680644618482E06724604
chr194455494844556685E068-35517
chr194455673144556943E068-35259
chr194457541944575610E068-16592
chr194457564244577153E068-15049
chr194459781244597885E0685610
chr194459793544597989E0685733
chr194459804744599722E0685845
chr194461578744615827E06823585
chr194461592544616789E06823723
chr194461680644618482E06824604
chr194455494844556685E069-35517
chr194455673144556943E069-35259
chr194457541944575610E069-16592
chr194457564244577153E069-15049
chr194459804744599722E0695845
chr194461578744615827E06923585
chr194461592544616789E06923723
chr194461680644618482E06924604
chr194455494844556685E070-35517
chr194455673144556943E070-35259
chr194457541944575610E070-16592
chr194457564244577153E070-15049
chr194459804744599722E0705845
chr194461592544616789E07023723
chr194461680644618482E07024604
chr194455494844556685E071-35517
chr194455673144556943E071-35259
chr194457541944575610E071-16592
chr194457564244577153E071-15049
chr194459804744599722E0715845
chr194461578744615827E07123585
chr194461592544616789E07123723
chr194461680644618482E07124604
chr194455494844556685E072-35517
chr194455673144556943E072-35259
chr194457541944575610E072-16592
chr194457564244577153E072-15049
chr194459804744599722E0725845
chr194461592544616789E07223723
chr194461680644618482E07224604
chr194455494844556685E073-35517
chr194455673144556943E073-35259
chr194457541944575610E073-16592
chr194457564244577153E073-15049
chr194459804744599722E0735845
chr194461592544616789E07323723
chr194461680644618482E07324604
chr194455494844556685E074-35517
chr194455673144556943E074-35259
chr194457541944575610E074-16592
chr194457564244577153E074-15049
chr194459804744599722E0745845
chr194461592544616789E07423723
chr194461680644618482E07424604
chr194455494844556685E081-35517
chr194455673144556943E081-35259
chr194457541944575610E081-16592
chr194457564244577153E081-15049
chr194459804744599722E0815845
chr194461592544616789E08123723
chr194461680644618482E08124604
chr194455494844556685E082-35517
chr194455673144556943E082-35259
chr194457541944575610E082-16592
chr194457564244577153E082-15049
chr194459804744599722E0825845
chr194461592544616789E08223723
chr194461680644618482E08224604