rs10413511

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZNF225 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0374 (10892/29118,TOPMED)
G==0317 (8245/25990,GnomAD)
G==0426 (2132/5008,1000G)
G==0149 (576/3854,ALSPAC)
G==0159 (588/3708,TWINSUK)

Position: chr19:44130658 (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.44130658G>A
GRCh37.p13 chr 19	NC_000019.9:g.44634811G>A

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 X3	XM_005259223.3: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

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.626	A=0.374
1000Genomes	American	Sub	694	G=0.460	A=0.540
1000Genomes	East Asian	Sub	1008	G=0.499	A=0.501
1000Genomes	Europe	Sub	1006	G=0.176	A=0.824
1000Genomes	Global	Study-wide	5008	G=0.426	A=0.574
1000Genomes	South Asian	Sub	978	G=0.310	A=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.149	A=0.851
The Genome Aggregation Database	African	Sub	7588	G=0.577	A=0.423
The Genome Aggregation Database	American	Sub	730	G=0.490	A=0.510
The Genome Aggregation Database	East Asian	Sub	1486	G=0.458	A=0.542
The Genome Aggregation Database	Europe	Sub	15902	G=0.174	A=0.825
The Genome Aggregation Database	Global	Study-wide	25990	G=0.317	A=0.682
The Genome Aggregation Database	Other	Sub	284	G=0.170	A=0.830
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.374	A=0.625
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.159	A=0.841

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
rs10413511	0.000137	alcohol consumption	23743675

eQTL of rs10413511 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44634811	ZNF284	ENSG00000186026.6	G>A	8.0274e-4	58514	Cerebellar_Hemisphere

meQTL of rs10413511 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	35947
chr19	44670933	44671011	E067	36122
chr19	44671049	44671115	E067	36238
chr19	44618883	44619034	E068	-15777
chr19	44670758	44670818	E068	35947
chr19	44670933	44671011	E068	36122
chr19	44600148	44600194	E069	-34617
chr19	44600148	44600194	E070	-34617
chr19	44618883	44619034	E070	-15777
chr19	44619037	44619091	E070	-15720
chr19	44619125	44619165	E070	-15646
chr19	44670758	44670818	E070	35947
chr19	44670933	44671011	E070	36122
chr19	44671049	44671115	E070	36238
chr19	44671876	44671938	E070	37065
chr19	44618883	44619034	E071	-15777
chr19	44670758	44670818	E071	35947
chr19	44670758	44670818	E072	35947
chr19	44670933	44671011	E072	36122
chr19	44670758	44670818	E074	35947
chr19	44670933	44671011	E074	36122
chr19	44671876	44671938	E074	37065
chr19	44670758	44670818	E081	35947
chr19	44670933	44671011	E081	36122
chr19	44671049	44671115	E081	36238
chr19	44671876	44671938	E081	37065
chr19	44600816	44600930	E082	-33881
chr19	44670933	44671011	E082	36122
chr19	44671049	44671115	E082	36238

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44598047	44599722	E067	-35089
chr19	44615925	44616789	E067	-18022
chr19	44616806	44618482	E067	-16329
chr19	44644881	44646741	E067	10070
chr19	44668498	44670041	E067	33687
chr19	44597812	44597885	E068	-36926
chr19	44597935	44597989	E068	-36822
chr19	44598047	44599722	E068	-35089
chr19	44615787	44615827	E068	-18984
chr19	44615925	44616789	E068	-18022
chr19	44616806	44618482	E068	-16329
chr19	44644743	44644803	E068	9932
chr19	44644881	44646741	E068	10070
chr19	44668498	44670041	E068	33687
chr19	44598047	44599722	E069	-35089
chr19	44615787	44615827	E069	-18984
chr19	44615925	44616789	E069	-18022
chr19	44616806	44618482	E069	-16329
chr19	44644881	44646741	E069	10070
chr19	44668498	44670041	E069	33687
chr19	44598047	44599722	E070	-35089
chr19	44615925	44616789	E070	-18022
chr19	44616806	44618482	E070	-16329
chr19	44644743	44644803	E070	9932
chr19	44644881	44646741	E070	10070
chr19	44668498	44670041	E070	33687
chr19	44598047	44599722	E071	-35089
chr19	44615787	44615827	E071	-18984
chr19	44615925	44616789	E071	-18022
chr19	44616806	44618482	E071	-16329
chr19	44644743	44644803	E071	9932
chr19	44644881	44646741	E071	10070
chr19	44668498	44670041	E071	33687
chr19	44598047	44599722	E072	-35089
chr19	44615925	44616789	E072	-18022
chr19	44616806	44618482	E072	-16329
chr19	44644743	44644803	E072	9932
chr19	44644881	44646741	E072	10070
chr19	44668498	44670041	E072	33687
chr19	44598047	44599722	E073	-35089
chr19	44615925	44616789	E073	-18022
chr19	44616806	44618482	E073	-16329
chr19	44644881	44646741	E073	10070
chr19	44668498	44670041	E073	33687
chr19	44598047	44599722	E074	-35089
chr19	44615925	44616789	E074	-18022
chr19	44616806	44618482	E074	-16329
chr19	44644881	44646741	E074	10070
chr19	44668498	44670041	E074	33687
chr19	44598047	44599722	E081	-35089
chr19	44615925	44616789	E081	-18022
chr19	44616806	44618482	E081	-16329
chr19	44644881	44646741	E081	10070
chr19	44668498	44670041	E081	33687
chr19	44598047	44599722	E082	-35089
chr19	44615925	44616789	E082	-18022
chr19	44616806	44618482	E082	-16329
chr19	44644743	44644803	E082	9932
chr19	44644881	44646741	E082	10070
chr19	44668498	44670041	E082	33687