rs7253485

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZNF225 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0366 (10680/29118,TOPMED)
A==0297 (8642/29028,GnomAD)
A==0410 (2051/5008,1000G)
A==0149 (574/3854,ALSPAC)
A==0157 (583/3708,TWINSUK)

Position: chr19:44120889 (GRCh38.p7) (19q13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 80 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.44120889A>G
GRCh37.p13 chr 19	NC_000019.9:g.44625042A>G

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	A=0.623	G=0.377
1000Genomes	American	Sub	694	A=0.360	G=0.640
1000Genomes	East Asian	Sub	1008	A=0.500	G=0.500
1000Genomes	Europe	Sub	1006	A=0.166	G=0.834
1000Genomes	Global	Study-wide	5008	A=0.410	G=0.590
1000Genomes	South Asian	Sub	978	A=0.310	G=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.149	G=0.851
The Genome Aggregation Database	African	Sub	8290	A=0.551	G=0.449
The Genome Aggregation Database	American	Sub	818	A=0.390	G=0.610
The Genome Aggregation Database	East Asian	Sub	1602	A=0.461	G=0.539
The Genome Aggregation Database	Europe	Sub	18018	A=0.164	G=0.835
The Genome Aggregation Database	Global	Study-wide	29028	A=0.297	G=0.702
The Genome Aggregation Database	Other	Sub	300	A=0.170	G=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.366	G=0.633
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.157	G=0.843

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
rs7253485	0.000185	alcohol consumption	23743675

eQTL of rs7253485 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs7253485 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	45716
chr19	44670933	44671011	E067	45891
chr19	44671049	44671115	E067	46007
chr19	44618883	44619034	E068	-6008
chr19	44670758	44670818	E068	45716
chr19	44670933	44671011	E068	45891
chr19	44600148	44600194	E069	-24848
chr19	44600148	44600194	E070	-24848
chr19	44618883	44619034	E070	-6008
chr19	44619037	44619091	E070	-5951
chr19	44619125	44619165	E070	-5877
chr19	44670758	44670818	E070	45716
chr19	44670933	44671011	E070	45891
chr19	44671049	44671115	E070	46007
chr19	44671876	44671938	E070	46834
chr19	44618883	44619034	E071	-6008
chr19	44670758	44670818	E071	45716
chr19	44670758	44670818	E072	45716
chr19	44670933	44671011	E072	45891
chr19	44670758	44670818	E074	45716
chr19	44670933	44671011	E074	45891
chr19	44671876	44671938	E074	46834
chr19	44670758	44670818	E081	45716
chr19	44670933	44671011	E081	45891
chr19	44671049	44671115	E081	46007
chr19	44671876	44671938	E081	46834
chr19	44600816	44600930	E082	-24112
chr19	44670933	44671011	E082	45891
chr19	44671049	44671115	E082	46007

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44575419	44575610	E067	-49432
chr19	44575642	44577153	E067	-47889
chr19	44598047	44599722	E067	-25320
chr19	44615925	44616789	E067	-8253
chr19	44616806	44618482	E067	-6560
chr19	44644881	44646741	E067	19839
chr19	44668498	44670041	E067	43456
chr19	44575419	44575610	E068	-49432
chr19	44575642	44577153	E068	-47889
chr19	44597812	44597885	E068	-27157
chr19	44597935	44597989	E068	-27053
chr19	44598047	44599722	E068	-25320
chr19	44615787	44615827	E068	-9215
chr19	44615925	44616789	E068	-8253
chr19	44616806	44618482	E068	-6560
chr19	44644743	44644803	E068	19701
chr19	44644881	44646741	E068	19839
chr19	44668498	44670041	E068	43456
chr19	44575419	44575610	E069	-49432
chr19	44575642	44577153	E069	-47889
chr19	44598047	44599722	E069	-25320
chr19	44615787	44615827	E069	-9215
chr19	44615925	44616789	E069	-8253
chr19	44616806	44618482	E069	-6560
chr19	44644881	44646741	E069	19839
chr19	44668498	44670041	E069	43456
chr19	44575419	44575610	E070	-49432
chr19	44575642	44577153	E070	-47889
chr19	44598047	44599722	E070	-25320
chr19	44615925	44616789	E070	-8253
chr19	44616806	44618482	E070	-6560
chr19	44644743	44644803	E070	19701
chr19	44644881	44646741	E070	19839
chr19	44668498	44670041	E070	43456
chr19	44575419	44575610	E071	-49432
chr19	44575642	44577153	E071	-47889
chr19	44598047	44599722	E071	-25320
chr19	44615787	44615827	E071	-9215
chr19	44615925	44616789	E071	-8253
chr19	44616806	44618482	E071	-6560
chr19	44644743	44644803	E071	19701
chr19	44644881	44646741	E071	19839
chr19	44668498	44670041	E071	43456
chr19	44575419	44575610	E072	-49432
chr19	44575642	44577153	E072	-47889
chr19	44598047	44599722	E072	-25320
chr19	44615925	44616789	E072	-8253
chr19	44616806	44618482	E072	-6560
chr19	44644743	44644803	E072	19701
chr19	44644881	44646741	E072	19839
chr19	44668498	44670041	E072	43456
chr19	44575419	44575610	E073	-49432
chr19	44575642	44577153	E073	-47889
chr19	44598047	44599722	E073	-25320
chr19	44615925	44616789	E073	-8253
chr19	44616806	44618482	E073	-6560
chr19	44644881	44646741	E073	19839
chr19	44668498	44670041	E073	43456
chr19	44575419	44575610	E074	-49432
chr19	44575642	44577153	E074	-47889
chr19	44598047	44599722	E074	-25320
chr19	44615925	44616789	E074	-8253
chr19	44616806	44618482	E074	-6560
chr19	44644881	44646741	E074	19839
chr19	44668498	44670041	E074	43456
chr19	44575419	44575610	E081	-49432
chr19	44575642	44577153	E081	-47889
chr19	44598047	44599722	E081	-25320
chr19	44615925	44616789	E081	-8253
chr19	44616806	44618482	E081	-6560
chr19	44644881	44646741	E081	19839
chr19	44668498	44670041	E081	43456
chr19	44575419	44575610	E082	-49432
chr19	44575642	44577153	E082	-47889
chr19	44598047	44599722	E082	-25320
chr19	44615925	44616789	E082	-8253
chr19	44616806	44618482	E082	-6560
chr19	44644743	44644803	E082	19701
chr19	44644881	44646741	E082	19839
chr19	44668498	44670041	E082	43456