rs2061333

Homo sapiens
C>T
ZNF225 : 2KB Upstream Variant
ZNF224 : 500B Downstream Variant
LOC100379224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0270 (8105/29926,GnomAD)
C==0310 (9043/29118,TOPMED)
C==0376 (1884/5008,1000G)
C==0157 (607/3854,ALSPAC)
C==0161 (597/3708,TWINSUK)
chr19:44110055 (GRCh38.p7) (19q13.31)
AD
GWASdb2
2   publication(s)
See rs on genome
8 Enhancers around
70 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.44110055C>T
GRCh37.p13 chr 19NC_000019.9:g.44614208C>T

Gene: ZNF224, zinc finger protein 224(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_001321645.1:c.N/ADownstream Transcript Variant
ZNF224 transcriptNM_013398.3:c.N/ADownstream Transcript Variant
ZNF224 transcript variant X1XM_017027261.1:c.N/ADownstream Transcript Variant

Gene: ZNF225, zinc finger protein 225(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ZNF225 transcript variant 2NM_001321685.1:c.N/AN/A
ZNF225 transcript variant 1NM_013362.3:c.N/AN/A
ZNF225 transcript variant X2XM_011527286.2:c.N/AUpstream Transcript Variant
ZNF225 transcript variant X3XM_005259223.3:c.N/AN/A
ZNF225 transcript variant X1XM_011527285.2:c.N/AN/A

Gene: LOC100379224, uncharacterized LOC100379224(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100379224 transcriptNR_033341.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.455T=0.545
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.464T=0.536
1000GenomesEuropeSub1006C=0.187T=0.813
1000GenomesGlobalStudy-wide5008C=0.376T=0.624
1000GenomesSouth AsianSub978C=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.157T=0.843
The Genome Aggregation DatabaseAfricanSub8704C=0.405T=0.595
The Genome Aggregation DatabaseAmericanSub834C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1614C=0.439T=0.561
The Genome Aggregation DatabaseEuropeSub18472C=0.184T=0.815
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.270T=0.729
The Genome Aggregation DatabaseOtherSub302C=0.220T=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.310T=0.689
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.161T=0.839
PMID Title Author Journal
19118814Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.Beecham GWAm J Hum Genet
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
rs20613330.000137alcohol consumption23743675

eQTL of rs2061333 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44614208ZNF284ENSG00000186026.6C>T8.0274e-437911Cerebellar_Hemisphere

meQTL of rs2061333 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 )
chr194461888344619034E0684675
chr194460014844600194E069-14014
chr194460014844600194E070-14014
chr194461888344619034E0704675
chr194461903744619091E0704829
chr194461912544619165E0704917
chr194461888344619034E0714675
chr194460081644600930E082-13278





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-38598
chr194457564244577153E067-37055
chr194459804744599722E067-14486
chr194461592544616789E0671717
chr194461680644618482E0672598
chr194464488144646741E06730673
chr194457541944575610E068-38598
chr194457564244577153E068-37055
chr194459781244597885E068-16323
chr194459793544597989E068-16219
chr194459804744599722E068-14486
chr194461578744615827E0681579
chr194461592544616789E0681717
chr194461680644618482E0682598
chr194464474344644803E06830535
chr194464488144646741E06830673
chr194457541944575610E069-38598
chr194457564244577153E069-37055
chr194459804744599722E069-14486
chr194461578744615827E0691579
chr194461592544616789E0691717
chr194461680644618482E0692598
chr194464488144646741E06930673
chr194457541944575610E070-38598
chr194457564244577153E070-37055
chr194459804744599722E070-14486
chr194461592544616789E0701717
chr194461680644618482E0702598
chr194464474344644803E07030535
chr194464488144646741E07030673
chr194457541944575610E071-38598
chr194457564244577153E071-37055
chr194459804744599722E071-14486
chr194461578744615827E0711579
chr194461592544616789E0711717
chr194461680644618482E0712598
chr194464474344644803E07130535
chr194464488144646741E07130673
chr194457541944575610E072-38598
chr194457564244577153E072-37055
chr194459804744599722E072-14486
chr194461592544616789E0721717
chr194461680644618482E0722598
chr194464474344644803E07230535
chr194464488144646741E07230673
chr194457541944575610E073-38598
chr194457564244577153E073-37055
chr194459804744599722E073-14486
chr194461592544616789E0731717
chr194461680644618482E0732598
chr194464488144646741E07330673
chr194457541944575610E074-38598
chr194457564244577153E074-37055
chr194459804744599722E074-14486
chr194461592544616789E0741717
chr194461680644618482E0742598
chr194464488144646741E07430673
chr194457541944575610E081-38598
chr194457564244577153E081-37055
chr194459804744599722E081-14486
chr194461592544616789E0811717
chr194461680644618482E0812598
chr194464488144646741E08130673
chr194457541944575610E082-38598
chr194457564244577153E082-37055
chr194459804744599722E082-14486
chr194461592544616789E0821717
chr194461680644618482E0822598
chr194464474344644803E08230535
chr194464488144646741E08230673