rs4802208

Organism: Homo sapiens

Alleles: G>C

Gene : Feature

ZNF225 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0305 (9138/29930,GnomAD)
G==0366 (10683/29118,TOPMED)
G==0410 (2052/5008,1000G)
G==0149 (575/3854,ALSPAC)
G==0158 (587/3708,TWINSUK)

Position: chr19:44123759 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 60 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44123759G>C
GRCh37.p13 chr 19	NC_000019.9:g.44627912G>C

Gene: ZNF225, zinc finger protein 225(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF225 transcript variant 2	NM_001321685.1:c.	N/A	Intron Variant
ZNF225 transcript variant 1	NM_013362.3:c.	N/A	Intron Variant
ZNF225 transcript variant X1	XM_011527285.2:c.	N/A	Intron Variant
ZNF225 transcript variant X2	XM_011527286.2:c.	N/A	Intron Variant
ZNF225 transcript variant X3	XM_005259223.3:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.624	C=0.376
1000Genomes	American	Sub	694	G=0.360	C=0.640
1000Genomes	East Asian	Sub	1008	G=0.500	C=0.500
1000Genomes	Europe	Sub	1006	G=0.166	C=0.834
1000Genomes	Global	Study-wide	5008	G=0.410	C=0.590
1000Genomes	South Asian	Sub	978	G=0.310	C=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.149	C=0.851
The Genome Aggregation Database	African	Sub	8704	G=0.566	C=0.434
The Genome Aggregation Database	American	Sub	836	G=0.390	C=0.610
The Genome Aggregation Database	East Asian	Sub	1614	G=0.462	C=0.538
The Genome Aggregation Database	Europe	Sub	18474	G=0.167	C=0.832
The Genome Aggregation Database	Global	Study-wide	29930	G=0.305	C=0.694
The Genome Aggregation Database	Other	Sub	302	G=0.170	C=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.366	C=0.633
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.158	C=0.842

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs4802208	0.000149	alcohol consumption	23743675

eQTL of rs4802208 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44627912	ZNF284	ENSG00000186026.6	G>C	8.0274e-4	51615	Cerebellar_Hemisphere

meQTL of rs4802208 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 )
chr19	44670758	44670818	E067	42846
chr19	44670933	44671011	E067	43021
chr19	44671049	44671115	E067	43137
chr19	44618883	44619034	E068	-8878
chr19	44670758	44670818	E068	42846
chr19	44670933	44671011	E068	43021
chr19	44600148	44600194	E069	-27718
chr19	44600148	44600194	E070	-27718
chr19	44618883	44619034	E070	-8878
chr19	44619037	44619091	E070	-8821
chr19	44619125	44619165	E070	-8747
chr19	44670758	44670818	E070	42846
chr19	44670933	44671011	E070	43021
chr19	44671049	44671115	E070	43137
chr19	44671876	44671938	E070	43964
chr19	44618883	44619034	E071	-8878
chr19	44670758	44670818	E071	42846
chr19	44670758	44670818	E072	42846
chr19	44670933	44671011	E072	43021
chr19	44670758	44670818	E074	42846
chr19	44670933	44671011	E074	43021
chr19	44671876	44671938	E074	43964
chr19	44670758	44670818	E081	42846
chr19	44670933	44671011	E081	43021
chr19	44671049	44671115	E081	43137
chr19	44671876	44671938	E081	43964
chr19	44600816	44600930	E082	-26982
chr19	44670933	44671011	E082	43021
chr19	44671049	44671115	E082	43137

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44598047	44599722	E067	-28190
chr19	44615925	44616789	E067	-11123
chr19	44616806	44618482	E067	-9430
chr19	44644881	44646741	E067	16969
chr19	44668498	44670041	E067	40586
chr19	44597812	44597885	E068	-30027
chr19	44597935	44597989	E068	-29923
chr19	44598047	44599722	E068	-28190
chr19	44615787	44615827	E068	-12085
chr19	44615925	44616789	E068	-11123
chr19	44616806	44618482	E068	-9430
chr19	44644743	44644803	E068	16831
chr19	44644881	44646741	E068	16969
chr19	44668498	44670041	E068	40586
chr19	44598047	44599722	E069	-28190
chr19	44615787	44615827	E069	-12085
chr19	44615925	44616789	E069	-11123
chr19	44616806	44618482	E069	-9430
chr19	44644881	44646741	E069	16969
chr19	44668498	44670041	E069	40586
chr19	44598047	44599722	E070	-28190
chr19	44615925	44616789	E070	-11123
chr19	44616806	44618482	E070	-9430
chr19	44644743	44644803	E070	16831
chr19	44644881	44646741	E070	16969
chr19	44668498	44670041	E070	40586
chr19	44598047	44599722	E071	-28190
chr19	44615787	44615827	E071	-12085
chr19	44615925	44616789	E071	-11123
chr19	44616806	44618482	E071	-9430
chr19	44644743	44644803	E071	16831
chr19	44644881	44646741	E071	16969
chr19	44668498	44670041	E071	40586
chr19	44598047	44599722	E072	-28190
chr19	44615925	44616789	E072	-11123
chr19	44616806	44618482	E072	-9430
chr19	44644743	44644803	E072	16831
chr19	44644881	44646741	E072	16969
chr19	44668498	44670041	E072	40586
chr19	44598047	44599722	E073	-28190
chr19	44615925	44616789	E073	-11123
chr19	44616806	44618482	E073	-9430
chr19	44644881	44646741	E073	16969
chr19	44668498	44670041	E073	40586
chr19	44598047	44599722	E074	-28190
chr19	44615925	44616789	E074	-11123
chr19	44616806	44618482	E074	-9430
chr19	44644881	44646741	E074	16969
chr19	44668498	44670041	E074	40586
chr19	44598047	44599722	E081	-28190
chr19	44615925	44616789	E081	-11123
chr19	44616806	44618482	E081	-9430
chr19	44644881	44646741	E081	16969
chr19	44668498	44670041	E081	40586
chr19	44598047	44599722	E082	-28190
chr19	44615925	44616789	E082	-11123
chr19	44616806	44618482	E082	-9430
chr19	44644743	44644803	E082	16831
chr19	44644881	44646741	E082	16969
chr19	44668498	44670041	E082	40586