rs1236715

Organism: Homo sapiens

Alleles: C>A / C>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0322 (9665/29962,GnomAD)
C==0386 (11248/29118,TOPMED)
C==0436 (2181/5008,1000G)
C==0150 (578/3854,ALSPAC)
C==0159 (591/3708,TWINSUK)

Position: chr19:44135405 (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.44135405C>A
GRCh38.p7 chr 19	NC_000019.10:g.44135405C>G
GRCh37.p13 chr 19	NC_000019.9:g.44639558C>A
GRCh37.p13 chr 19	NC_000019.9:g.44639558C>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.657	G=0.343
1000Genomes	American	Sub	694	C=0.470	G=0.530
1000Genomes	East Asian	Sub	1008	C=0.498	G=0.502
1000Genomes	Europe	Sub	1006	C=0.176	G=0.824
1000Genomes	Global	Study-wide	5008	C=0.436	G=0.564
1000Genomes	South Asian	Sub	978	C=0.310	G=0.690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.150	G=0.850
The Genome Aggregation Database	African	Sub	8718	C=0.597	A=0.000
The Genome Aggregation Database	American	Sub	836	C=0.480	A=0.00,
The Genome Aggregation Database	East Asian	Sub	1616	C=0.459	A=0.000
The Genome Aggregation Database	Europe	Sub	18490	C=0.176	A=0.000
The Genome Aggregation Database	Global	Study-wide	29962	C=0.322	A=0.000
The Genome Aggregation Database	Other	Sub	302	C=0.170	A=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.386	G=0.613
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.159	G=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
rs1236715	8.45E-05	alcohol consumption	23743675

eQTL of rs1236715 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:44639558	ZNF284	ENSG00000186026.6	C>G	8.0274e-4	63261	Cerebellar_Hemisphere

meQTL of rs1236715 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	37200
chr19	44670933	44671011	E067	37375
chr19	44671049	44671115	E067	37491
chr19	44618883	44619034	E068	-14524
chr19	44670758	44670818	E068	37200
chr19	44670933	44671011	E068	37375
chr19	44600148	44600194	E069	-33364
chr19	44600148	44600194	E070	-33364
chr19	44618883	44619034	E070	-14524
chr19	44619037	44619091	E070	-14467
chr19	44619125	44619165	E070	-14393
chr19	44670758	44670818	E070	37200
chr19	44670933	44671011	E070	37375
chr19	44671049	44671115	E070	37491
chr19	44671876	44671938	E070	38318
chr19	44618883	44619034	E071	-14524
chr19	44670758	44670818	E071	37200
chr19	44670758	44670818	E072	37200
chr19	44670933	44671011	E072	37375
chr19	44670758	44670818	E074	37200
chr19	44670933	44671011	E074	37375
chr19	44671876	44671938	E074	38318
chr19	44670758	44670818	E081	37200
chr19	44670933	44671011	E081	37375
chr19	44671049	44671115	E081	37491
chr19	44671876	44671938	E081	38318
chr19	44600816	44600930	E082	-32628
chr19	44670933	44671011	E082	37375
chr19	44671049	44671115	E082	37491

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	44598047	44599722	E067	-33836
chr19	44615925	44616789	E067	-16769
chr19	44616806	44618482	E067	-15076
chr19	44644881	44646741	E067	11323
chr19	44668498	44670041	E067	34940
chr19	44597812	44597885	E068	-35673
chr19	44597935	44597989	E068	-35569
chr19	44598047	44599722	E068	-33836
chr19	44615787	44615827	E068	-17731
chr19	44615925	44616789	E068	-16769
chr19	44616806	44618482	E068	-15076
chr19	44644743	44644803	E068	11185
chr19	44644881	44646741	E068	11323
chr19	44668498	44670041	E068	34940
chr19	44598047	44599722	E069	-33836
chr19	44615787	44615827	E069	-17731
chr19	44615925	44616789	E069	-16769
chr19	44616806	44618482	E069	-15076
chr19	44644881	44646741	E069	11323
chr19	44668498	44670041	E069	34940
chr19	44598047	44599722	E070	-33836
chr19	44615925	44616789	E070	-16769
chr19	44616806	44618482	E070	-15076
chr19	44644743	44644803	E070	11185
chr19	44644881	44646741	E070	11323
chr19	44668498	44670041	E070	34940
chr19	44598047	44599722	E071	-33836
chr19	44615787	44615827	E071	-17731
chr19	44615925	44616789	E071	-16769
chr19	44616806	44618482	E071	-15076
chr19	44644743	44644803	E071	11185
chr19	44644881	44646741	E071	11323
chr19	44668498	44670041	E071	34940
chr19	44598047	44599722	E072	-33836
chr19	44615925	44616789	E072	-16769
chr19	44616806	44618482	E072	-15076
chr19	44644743	44644803	E072	11185
chr19	44644881	44646741	E072	11323
chr19	44668498	44670041	E072	34940
chr19	44598047	44599722	E073	-33836
chr19	44615925	44616789	E073	-16769
chr19	44616806	44618482	E073	-15076
chr19	44644881	44646741	E073	11323
chr19	44668498	44670041	E073	34940
chr19	44598047	44599722	E074	-33836
chr19	44615925	44616789	E074	-16769
chr19	44616806	44618482	E074	-15076
chr19	44644881	44646741	E074	11323
chr19	44668498	44670041	E074	34940
chr19	44598047	44599722	E081	-33836
chr19	44615925	44616789	E081	-16769
chr19	44616806	44618482	E081	-15076
chr19	44644881	44646741	E081	11323
chr19	44668498	44670041	E081	34940
chr19	44598047	44599722	E082	-33836
chr19	44615925	44616789	E082	-16769
chr19	44616806	44618482	E082	-15076
chr19	44644743	44644803	E082	11185
chr19	44644881	44646741	E082	11323
chr19	44668498	44670041	E082	34940