rs4465222

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0155 (4659/29920,GnomAD)
T==0182 (5299/29118,TOPMED)
T==0213 (1065/5008,1000G)
T==0101 (391/3854,ALSPAC)
T==0108 (400/3708,TWINSUK)

Position: chr1:5250198 (GRCh38.p7) (1p36.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 141 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.5250198T>C
GRCh37.p13 chr 1	NC_000001.10:g.5310258T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.272	C=0.728
1000Genomes	American	Sub	694	T=0.320	C=0.680
1000Genomes	East Asian	Sub	1008	T=0.168	C=0.832
1000Genomes	Europe	Sub	1006	T=0.099	C=0.901
1000Genomes	Global	Study-wide	5008	T=0.213	C=0.787
1000Genomes	South Asian	Sub	978	T=0.220	C=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.101	C=0.899
The Genome Aggregation Database	African	Sub	8696	T=0.264	C=0.736
The Genome Aggregation Database	American	Sub	838	T=0.280	C=0.720
The Genome Aggregation Database	East Asian	Sub	1614	T=0.174	C=0.826
The Genome Aggregation Database	Europe	Sub	18470	T=0.098	C=0.901
The Genome Aggregation Database	Global	Study-wide	29920	T=0.155	C=0.844
The Genome Aggregation Database	Other	Sub	302	T=0.110	C=0.890
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.182	C=0.818
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.108	C=0.892

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs4465222	4.93E-06	alcohol consumption	23953852

eQTL of rs4465222 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 rs4465222 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	5280660	5281294	E067	-28964
chr1	5281434	5281655	E067	-28603
chr1	5298476	5298644	E067	-11614
chr1	5298929	5299093	E067	-11165
chr1	5299366	5299667	E067	-10591
chr1	5300132	5300318	E067	-9940
chr1	5300434	5300488	E067	-9770
chr1	5356648	5356748	E067	46390
chr1	5356854	5356944	E067	46596
chr1	5357072	5357253	E067	46814
chr1	5357370	5357646	E067	47112
chr1	5357648	5357875	E067	47390
chr1	5357920	5357970	E067	47662
chr1	5283496	5283575	E068	-26683
chr1	5298929	5299093	E068	-11165
chr1	5300132	5300318	E068	-9940
chr1	5356201	5356404	E068	45943
chr1	5356414	5356515	E068	46156
chr1	5356648	5356748	E068	46390
chr1	5356854	5356944	E068	46596
chr1	5357072	5357253	E068	46814
chr1	5357920	5357970	E068	47662
chr1	5283496	5283575	E069	-26683
chr1	5298476	5298644	E069	-11614
chr1	5298929	5299093	E069	-11165
chr1	5299366	5299667	E069	-10591
chr1	5300132	5300318	E069	-9940
chr1	5333507	5333699	E069	23249
chr1	5333756	5333935	E069	23498
chr1	5347747	5347924	E069	37489
chr1	5356201	5356404	E069	45943
chr1	5356414	5356515	E069	46156
chr1	5356648	5356748	E069	46390
chr1	5356854	5356944	E069	46596
chr1	5357072	5357253	E069	46814
chr1	5357370	5357646	E069	47112
chr1	5357648	5357875	E069	47390
chr1	5357920	5357970	E069	47662
chr1	5298476	5298644	E070	-11614
chr1	5298929	5299093	E070	-11165
chr1	5299366	5299667	E070	-10591
chr1	5300132	5300318	E070	-9940
chr1	5300434	5300488	E070	-9770
chr1	5347747	5347924	E070	37489
chr1	5348097	5348219	E070	37839
chr1	5356648	5356748	E070	46390
chr1	5356854	5356944	E070	46596
chr1	5357072	5357253	E070	46814
chr1	5357370	5357646	E070	47112
chr1	5357648	5357875	E070	47390
chr1	5357920	5357970	E070	47662
chr1	5283496	5283575	E071	-26683
chr1	5298476	5298644	E071	-11614
chr1	5299366	5299667	E071	-10591
chr1	5300132	5300318	E071	-9940
chr1	5300434	5300488	E071	-9770
chr1	5333507	5333699	E071	23249
chr1	5333756	5333935	E071	23498
chr1	5334077	5334202	E071	23819
chr1	5334671	5334775	E071	24413
chr1	5334778	5334897	E071	24520
chr1	5339345	5339486	E071	29087
chr1	5348097	5348219	E071	37839
chr1	5356201	5356404	E071	45943
chr1	5356414	5356515	E071	46156
chr1	5356648	5356748	E071	46390
chr1	5356854	5356944	E071	46596
chr1	5357072	5357253	E071	46814
chr1	5357370	5357646	E071	47112
chr1	5357648	5357875	E071	47390
chr1	5357920	5357970	E071	47662
chr1	5283496	5283575	E072	-26683
chr1	5298929	5299093	E072	-11165
chr1	5299366	5299667	E072	-10591
chr1	5300132	5300318	E072	-9940
chr1	5300434	5300488	E072	-9770
chr1	5356201	5356404	E072	45943
chr1	5356414	5356515	E072	46156
chr1	5356648	5356748	E072	46390
chr1	5356854	5356944	E072	46596
chr1	5357072	5357253	E072	46814
chr1	5357370	5357646	E072	47112
chr1	5357648	5357875	E072	47390
chr1	5357920	5357970	E072	47662
chr1	5298476	5298644	E073	-11614
chr1	5298929	5299093	E073	-11165
chr1	5333507	5333699	E073	23249
chr1	5333756	5333935	E073	23498
chr1	5356854	5356944	E073	46596
chr1	5357072	5357253	E073	46814
chr1	5357920	5357970	E073	47662
chr1	5283496	5283575	E074	-26683
chr1	5299366	5299667	E074	-10591
chr1	5300132	5300318	E074	-9940
chr1	5300434	5300488	E074	-9770
chr1	5333507	5333699	E074	23249
chr1	5333756	5333935	E074	23498
chr1	5334077	5334202	E074	23819
chr1	5339345	5339486	E074	29087
chr1	5347747	5347924	E074	37489
chr1	5348097	5348219	E074	37839
chr1	5356201	5356404	E074	45943
chr1	5356414	5356515	E074	46156
chr1	5356648	5356748	E074	46390
chr1	5356854	5356944	E074	46596
chr1	5357072	5357253	E074	46814
chr1	5357370	5357646	E074	47112
chr1	5357648	5357875	E074	47390
chr1	5357920	5357970	E074	47662
chr1	5280660	5281294	E081	-28964
chr1	5281434	5281655	E081	-28603
chr1	5291637	5292502	E081	-17756
chr1	5298476	5298644	E081	-11614
chr1	5298929	5299093	E081	-11165
chr1	5299366	5299667	E081	-10591
chr1	5325458	5326053	E081	15200
chr1	5327621	5327734	E081	17363
chr1	5327773	5327995	E081	17515
chr1	5347747	5347924	E081	37489
chr1	5348097	5348219	E081	37839
chr1	5348418	5348525	E081	38160
chr1	5356201	5356404	E081	45943
chr1	5356414	5356515	E081	46156
chr1	5356648	5356748	E081	46390
chr1	5356854	5356944	E081	46596
chr1	5357072	5357253	E081	46814
chr1	5357370	5357646	E081	47112
chr1	5357648	5357875	E081	47390
chr1	5357920	5357970	E081	47662
chr1	5280660	5281294	E082	-28964
chr1	5291637	5292502	E082	-17756
chr1	5325458	5326053	E082	15200
chr1	5347747	5347924	E082	37489
chr1	5348097	5348219	E082	37839
chr1	5356201	5356404	E082	45943
chr1	5356414	5356515	E082	46156
chr1	5356648	5356748	E082	46390
chr1	5356854	5356944	E082	46596
chr1	5357072	5357253	E082	46814
chr1	5357370	5357646	E082	47112
chr1	5357648	5357875	E082	47390