rs2061332

Homo sapiens
A>C
ZNF224 : 3 Prime UTR Variant
ZNF225 : 2KB Upstream Variant
LOC100379224 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0346 (10348/29888,GnomAD)
A==0423 (12331/29118,TOPMED)
A==0450 (2256/5008,1000G)
A==0159 (612/3854,ALSPAC)
A==0162 (600/3708,TWINSUK)
chr19:44109508 (GRCh38.p7) (19q13.31)
AD
GWASdb2
3   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.44109508A>C
GRCh37.p13 chr 19NC_000019.9:g.44613661A>C

Gene: ZNF224, zinc finger protein 224(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF224 transcriptNM_013398.3:c.N/A3 Prime UTR Variant
ZNF224 transcriptNM_001321645.1:c.N/A3 Prime UTR Variant
ZNF224 transcript variant X1XM_017027261.1:c.N/A3 Prime UTR 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
1000GenomesAfricanSub1322A=0.719C=0.281
1000GenomesAmericanSub694A=0.490C=0.510
1000GenomesEast AsianSub1008A=0.464C=0.536
1000GenomesEuropeSub1006A=0.188C=0.812
1000GenomesGlobalStudy-wide5008A=0.450C=0.550
1000GenomesSouth AsianSub978A=0.310C=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.159C=0.841
The Genome Aggregation DatabaseAfricanSub8702A=0.660C=0.340
The Genome Aggregation DatabaseAmericanSub832A=0.500C=0.500
The Genome Aggregation DatabaseEast AsianSub1612A=0.442C=0.558
The Genome Aggregation DatabaseEuropeSub18440A=0.185C=0.814
The Genome Aggregation DatabaseGlobalStudy-wide29888A=0.346C=0.653
The Genome Aggregation DatabaseOtherSub302A=0.220C=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.423C=0.576
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.162C=0.838
PMID Title Author Journal
19118814Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.Beecham GWAm J Hum Genet
21537399Using Fisher's method with PLINK 'LD clumped' output to compare SNP effects across Genome-wide Association Study (GWAS) datasets.Shi HInt J Mol Epidemiol 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
rs20613320.00012alcohol consumption23743675

eQTL of rs2061332 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:44613661ZNF284ENSG00000186026.6A>C6.4241e-437364Cerebellum
Chr19:44613661ZNF284ENSG00000186026.6A>C8.0274e-437364Cerebellar_Hemisphere

meQTL of rs2061332 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 )
chr194461888344619034E0685222
chr194460014844600194E069-13467
chr194460014844600194E070-13467
chr194461888344619034E0705222
chr194461903744619091E0705376
chr194461912544619165E0705464
chr194461888344619034E0715222
chr194460081644600930E082-12731





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194457541944575610E067-38051
chr194457564244577153E067-36508
chr194459804744599722E067-13939
chr194461592544616789E0672264
chr194461680644618482E0673145
chr194464488144646741E06731220
chr194457541944575610E068-38051
chr194457564244577153E068-36508
chr194459781244597885E068-15776
chr194459793544597989E068-15672
chr194459804744599722E068-13939
chr194461578744615827E0682126
chr194461592544616789E0682264
chr194461680644618482E0683145
chr194464474344644803E06831082
chr194464488144646741E06831220
chr194457541944575610E069-38051
chr194457564244577153E069-36508
chr194459804744599722E069-13939
chr194461578744615827E0692126
chr194461592544616789E0692264
chr194461680644618482E0693145
chr194464488144646741E06931220
chr194457541944575610E070-38051
chr194457564244577153E070-36508
chr194459804744599722E070-13939
chr194461592544616789E0702264
chr194461680644618482E0703145
chr194464474344644803E07031082
chr194464488144646741E07031220
chr194457541944575610E071-38051
chr194457564244577153E071-36508
chr194459804744599722E071-13939
chr194461578744615827E0712126
chr194461592544616789E0712264
chr194461680644618482E0713145
chr194464474344644803E07131082
chr194464488144646741E07131220
chr194457541944575610E072-38051
chr194457564244577153E072-36508
chr194459804744599722E072-13939
chr194461592544616789E0722264
chr194461680644618482E0723145
chr194464474344644803E07231082
chr194464488144646741E07231220
chr194457541944575610E073-38051
chr194457564244577153E073-36508
chr194459804744599722E073-13939
chr194461592544616789E0732264
chr194461680644618482E0733145
chr194464488144646741E07331220
chr194457541944575610E074-38051
chr194457564244577153E074-36508
chr194459804744599722E074-13939
chr194461592544616789E0742264
chr194461680644618482E0743145
chr194464488144646741E07431220
chr194457541944575610E081-38051
chr194457564244577153E081-36508
chr194459804744599722E081-13939
chr194461592544616789E0812264
chr194461680644618482E0813145
chr194464488144646741E08131220
chr194457541944575610E082-38051
chr194457564244577153E082-36508
chr194459804744599722E082-13939
chr194461592544616789E0822264
chr194461680644618482E0823145
chr194464474344644803E08231082
chr194464488144646741E08231220