rs4656517

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0202 (6081/29978,GnomAD)
G==0186 (5432/29118,TOPMED)
G==0200 (1002/5008,1000G)
G==0189 (727/3854,ALSPAC)
G==0186 (689/3708,TWINSUK)

Position: chr1:166886822 (GRCh38.p7) (1q24.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 208 Enhancers around

Promoter: 45 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.166886822G>A
GRCh37.p13 chr 1	NC_000001.10:g.166856059G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.144	A=0.856
1000Genomes	American	Sub	694	G=0.350	A=0.650
1000Genomes	East Asian	Sub	1008	G=0.132	A=0.868
1000Genomes	Europe	Sub	1006	G=0.158	A=0.842
1000Genomes	Global	Study-wide	5008	G=0.200	A=0.800
1000Genomes	South Asian	Sub	978	G=0.280	A=0.720
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.189	A=0.811
The Genome Aggregation Database	African	Sub	8718	G=0.159	A=0.841
The Genome Aggregation Database	American	Sub	836	G=0.410	A=0.590
The Genome Aggregation Database	East Asian	Sub	1622	G=0.133	A=0.867
The Genome Aggregation Database	Europe	Sub	18500	G=0.222	A=0.777
The Genome Aggregation Database	Global	Study-wide	29978	G=0.202	A=0.797
The Genome Aggregation Database	Other	Sub	302	G=0.060	A=0.940
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.186	A=0.813
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.186	A=0.814

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs4656517	0.00088	alcohol consumption (maxi-drinks)	24277619

eQTL of rs4656517 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:166856059	MAEL	ENSG00000143194.8	G>A	2.1392e-14	-102287	Cortex
Chr1:166856059	MAEL	ENSG00000143194.8	G>A	1.3509e-9	-102287	Nucleus_accumbens_basal_ganglia

meQTL of rs4656517 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 )
chr1	166807705	166807789	E067	-48270
chr1	166810725	166810778	E067	-45281
chr1	166811578	166811646	E067	-44413
chr1	166811818	166811953	E067	-44106
chr1	166812360	166812421	E067	-43638
chr1	166812525	166812579	E067	-43480
chr1	166812768	166812836	E067	-43223
chr1	166812885	166813288	E067	-42771
chr1	166813472	166813724	E067	-42335
chr1	166813944	166814140	E067	-41919
chr1	166814202	166814329	E067	-41730
chr1	166815065	166815134	E067	-40925
chr1	166815487	166815553	E067	-40506
chr1	166815906	166815962	E067	-40097
chr1	166824872	166824954	E067	-31105
chr1	166828038	166828254	E067	-27805
chr1	166828300	166828380	E067	-27679
chr1	166828448	166828535	E067	-27524
chr1	166828784	166828955	E067	-27104
chr1	166828994	166829135	E067	-26924
chr1	166831032	166831082	E067	-24977
chr1	166841359	166841523	E067	-14536
chr1	166842627	166842713	E067	-13346
chr1	166843894	166843990	E067	-12069
chr1	166844346	166844396	E067	-11663
chr1	166807705	166807789	E068	-48270
chr1	166811578	166811646	E068	-44413
chr1	166811818	166811953	E068	-44106
chr1	166812360	166812421	E068	-43638
chr1	166812525	166812579	E068	-43480
chr1	166812768	166812836	E068	-43223
chr1	166813472	166813724	E068	-42335
chr1	166813944	166814140	E068	-41919
chr1	166814202	166814329	E068	-41730
chr1	166815065	166815134	E068	-40925
chr1	166815487	166815553	E068	-40506
chr1	166828038	166828254	E068	-27805
chr1	166828300	166828380	E068	-27679
chr1	166828784	166828955	E068	-27104
chr1	166828994	166829135	E068	-26924
chr1	166841359	166841523	E068	-14536
chr1	166841951	166842001	E068	-14058
chr1	166842196	166842282	E068	-13777
chr1	166843894	166843990	E068	-12069
chr1	166844346	166844396	E068	-11663
chr1	166807400	166807470	E069	-48589
chr1	166811578	166811646	E069	-44413
chr1	166811818	166811953	E069	-44106
chr1	166812360	166812421	E069	-43638
chr1	166812525	166812579	E069	-43480
chr1	166813472	166813724	E069	-42335
chr1	166813944	166814140	E069	-41919
chr1	166814202	166814329	E069	-41730
chr1	166815065	166815134	E069	-40925
chr1	166815487	166815553	E069	-40506
chr1	166815906	166815962	E069	-40097
chr1	166824872	166824954	E069	-31105
chr1	166828784	166828955	E069	-27104
chr1	166828994	166829135	E069	-26924
chr1	166841359	166841523	E069	-14536
chr1	166841951	166842001	E069	-14058
chr1	166842196	166842282	E069	-13777
chr1	166842540	166842580	E069	-13479
chr1	166842627	166842713	E069	-13346
chr1	166843894	166843990	E069	-12069
chr1	166858084	166858258	E069	2025
chr1	166810725	166810778	E070	-45281
chr1	166811578	166811646	E070	-44413
chr1	166811818	166811953	E070	-44106
chr1	166812360	166812421	E070	-43638
chr1	166812525	166812579	E070	-43480
chr1	166812768	166812836	E070	-43223
chr1	166812885	166813288	E070	-42771
chr1	166815065	166815134	E070	-40925
chr1	166815487	166815553	E070	-40506
chr1	166815906	166815962	E070	-40097
chr1	166819012	166819062	E070	-36997
chr1	166822328	166822378	E070	-33681
chr1	166822594	166822719	E070	-33340
chr1	166822751	166822867	E070	-33192
chr1	166822904	166822986	E070	-33073
chr1	166842540	166842580	E070	-13479
chr1	166842627	166842713	E070	-13346
chr1	166858084	166858258	E070	2025
chr1	166858332	166858427	E070	2273
chr1	166899310	166899479	E070	43251
chr1	166807400	166807470	E071	-48589
chr1	166807705	166807789	E071	-48270
chr1	166810725	166810778	E071	-45281
chr1	166811578	166811646	E071	-44413
chr1	166811818	166811953	E071	-44106
chr1	166812360	166812421	E071	-43638
chr1	166812525	166812579	E071	-43480
chr1	166813472	166813724	E071	-42335
chr1	166813944	166814140	E071	-41919
chr1	166814202	166814329	E071	-41730
chr1	166815065	166815134	E071	-40925
chr1	166815487	166815553	E071	-40506
chr1	166815906	166815962	E071	-40097
chr1	166824872	166824954	E071	-31105
chr1	166828038	166828254	E071	-27805
chr1	166828300	166828380	E071	-27679
chr1	166828448	166828535	E071	-27524
chr1	166828784	166828955	E071	-27104
chr1	166828994	166829135	E071	-26924
chr1	166831032	166831082	E071	-24977
chr1	166838124	166838184	E071	-17875
chr1	166841359	166841523	E071	-14536
chr1	166841951	166842001	E071	-14058
chr1	166842196	166842282	E071	-13777
chr1	166842540	166842580	E071	-13479
chr1	166842627	166842713	E071	-13346
chr1	166843894	166843990	E071	-12069
chr1	166879386	166879451	E071	23327
chr1	166807705	166807789	E072	-48270
chr1	166811578	166811646	E072	-44413
chr1	166811818	166811953	E072	-44106
chr1	166812360	166812421	E072	-43638
chr1	166812525	166812579	E072	-43480
chr1	166812768	166812836	E072	-43223
chr1	166812885	166813288	E072	-42771
chr1	166813472	166813724	E072	-42335
chr1	166814202	166814329	E072	-41730
chr1	166815065	166815134	E072	-40925
chr1	166815487	166815553	E072	-40506
chr1	166815906	166815962	E072	-40097
chr1	166820527	166820647	E072	-35412
chr1	166823814	166823854	E072	-32205
chr1	166828038	166828254	E072	-27805
chr1	166828300	166828380	E072	-27679
chr1	166828448	166828535	E072	-27524
chr1	166828784	166828955	E072	-27104
chr1	166828994	166829135	E072	-26924
chr1	166835253	166835447	E072	-20612
chr1	166841359	166841523	E072	-14536
chr1	166841951	166842001	E072	-14058
chr1	166842196	166842282	E072	-13777
chr1	166842540	166842580	E072	-13479
chr1	166842627	166842713	E072	-13346
chr1	166843894	166843990	E072	-12069
chr1	166844346	166844396	E072	-11663
chr1	166807705	166807789	E073	-48270
chr1	166811578	166811646	E073	-44413
chr1	166811818	166811953	E073	-44106
chr1	166812360	166812421	E073	-43638
chr1	166812525	166812579	E073	-43480
chr1	166812768	166812836	E073	-43223
chr1	166812885	166813288	E073	-42771
chr1	166813472	166813724	E073	-42335
chr1	166813944	166814140	E073	-41919
chr1	166814202	166814329	E073	-41730
chr1	166815065	166815134	E073	-40925
chr1	166815487	166815553	E073	-40506
chr1	166815906	166815962	E073	-40097
chr1	166828038	166828254	E073	-27805
chr1	166828300	166828380	E073	-27679
chr1	166828448	166828535	E073	-27524
chr1	166828784	166828955	E073	-27104
chr1	166828994	166829135	E073	-26924
chr1	166838124	166838184	E073	-17875
chr1	166841359	166841523	E073	-14536
chr1	166841951	166842001	E073	-14058
chr1	166842196	166842282	E073	-13777
chr1	166844346	166844396	E073	-11663
chr1	166810725	166810778	E074	-45281
chr1	166811578	166811646	E074	-44413
chr1	166811818	166811953	E074	-44106
chr1	166812360	166812421	E074	-43638
chr1	166812525	166812579	E074	-43480
chr1	166812768	166812836	E074	-43223
chr1	166812885	166813288	E074	-42771
chr1	166813472	166813724	E074	-42335
chr1	166813944	166814140	E074	-41919
chr1	166814202	166814329	E074	-41730
chr1	166824872	166824954	E074	-31105
chr1	166828038	166828254	E074	-27805
chr1	166828300	166828380	E074	-27679
chr1	166828784	166828955	E074	-27104
chr1	166828994	166829135	E074	-26924
chr1	166841359	166841523	E074	-14536
chr1	166842627	166842713	E074	-13346
chr1	166843894	166843990	E074	-12069
chr1	166844346	166844396	E074	-11663
chr1	166807705	166807789	E081	-48270
chr1	166810725	166810778	E081	-45281
chr1	166811818	166811953	E081	-44106
chr1	166812768	166812836	E081	-43223
chr1	166812885	166813288	E081	-42771
chr1	166843894	166843990	E081	-12069
chr1	166844346	166844396	E081	-11663
chr1	166858084	166858258	E081	2025
chr1	166858332	166858427	E081	2273
chr1	166894615	166894802	E081	38556
chr1	166894861	166894986	E081	38802
chr1	166895091	166895452	E081	39032
chr1	166807400	166807470	E082	-48589
chr1	166810725	166810778	E082	-45281
chr1	166811578	166811646	E082	-44413
chr1	166811818	166811953	E082	-44106
chr1	166812360	166812421	E082	-43638
chr1	166812525	166812579	E082	-43480
chr1	166812768	166812836	E082	-43223
chr1	166819012	166819062	E082	-36997
chr1	166819328	166819382	E082	-36677
chr1	166820527	166820647	E082	-35412
chr1	166821090	166821219	E082	-34840
chr1	166858084	166858258	E082	2025
chr1	166858332	166858427	E082	2273

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	166808009	166810637	E067	-45422
chr1	166844623	166846078	E067	-9981
chr1	166846160	166846229	E067	-9830
chr1	166853411	166853837	E067	-2222
chr1	166889825	166890966	E067	33766
chr1	166808009	166810637	E068	-45422
chr1	166844623	166846078	E068	-9981
chr1	166846160	166846229	E068	-9830
chr1	166853411	166853837	E068	-2222
chr1	166889576	166889778	E068	33517
chr1	166889825	166890966	E068	33766
chr1	166808009	166810637	E069	-45422
chr1	166844623	166846078	E069	-9981
chr1	166846160	166846229	E069	-9830
chr1	166853411	166853837	E069	-2222
chr1	166889825	166890966	E069	33766
chr1	166808009	166810637	E070	-45422
chr1	166844623	166846078	E070	-9981
chr1	166846160	166846229	E070	-9830
chr1	166853411	166853837	E070	-2222
chr1	166889825	166890966	E070	33766
chr1	166808009	166810637	E071	-45422
chr1	166844623	166846078	E071	-9981
chr1	166846160	166846229	E071	-9830
chr1	166853411	166853837	E071	-2222
chr1	166889576	166889778	E071	33517
chr1	166889825	166890966	E071	33766
chr1	166808009	166810637	E072	-45422
chr1	166844623	166846078	E072	-9981
chr1	166853411	166853837	E072	-2222
chr1	166889576	166889778	E072	33517
chr1	166889825	166890966	E072	33766
chr1	166808009	166810637	E073	-45422
chr1	166844623	166846078	E073	-9981
chr1	166846160	166846229	E073	-9830
chr1	166853411	166853837	E073	-2222
chr1	166889825	166890966	E073	33766
chr1	166808009	166810637	E074	-45422
chr1	166844623	166846078	E074	-9981
chr1	166846160	166846229	E074	-9830
chr1	166808009	166810637	E081	-45422
chr1	166808009	166810637	E082	-45422
chr1	166844623	166846078	E082	-9981
chr1	166846160	166846229	E082	-9830
chr1	166889825	166890966	E082	33766