rs4254133

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0051 (1547/29950,GnomAD)
T=0036 (1054/29118,TOPMED)
T=0018 (89/5008,1000G)
T=0066 (255/3854,ALSPAC)
T=0067 (247/3708,TWINSUK)

Position: chr12:82677869 (GRCh38.p7) (12q21.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 135 Enhancers around

Promoter: 80 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.82677869C>T
GRCh37.p13 chr 12	NC_000012.11:g.83071648C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.998	T=0.002
1000Genomes	American	Sub	694	C=0.970	T=0.030
1000Genomes	East Asian	Sub	1008	C=1.000	T=0.000
1000Genomes	Europe	Sub	1006	C=0.941	T=0.059
1000Genomes	Global	Study-wide	5008	C=0.982	T=0.018
1000Genomes	South Asian	Sub	978	C=0.990	T=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.934	T=0.066
The Genome Aggregation Database	African	Sub	8724	C=0.986	T=0.014
The Genome Aggregation Database	American	Sub	838	C=0.960	T=0.040
The Genome Aggregation Database	East Asian	Sub	1620	C=0.999	T=0.001
The Genome Aggregation Database	Europe	Sub	18466	C=0.925	T=0.074
The Genome Aggregation Database	Global	Study-wide	29950	C=0.948	T=0.051
The Genome Aggregation Database	Other	Sub	302	C=0.940	T=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.963	T=0.036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.933	T=0.067

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs4254133	0.00049	alcohol dependence	20201924

eQTL of rs4254133 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 rs4254133 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 )
chr12	83044267	83045000	E067	-26648
chr12	83084611	83084661	E067	12963
chr12	83084805	83084859	E067	13157
chr12	83084895	83084945	E067	13247
chr12	83085296	83085598	E067	13648
chr12	83085844	83086057	E067	14196
chr12	83086451	83086506	E067	14803
chr12	83092649	83092732	E067	21001
chr12	83101788	83102841	E067	30140
chr12	83044267	83045000	E068	-26648
chr12	83057758	83057933	E068	-13715
chr12	83057947	83058015	E068	-13633
chr12	83075963	83076003	E068	4315
chr12	83076067	83076422	E068	4419
chr12	83076551	83076950	E068	4903
chr12	83085844	83086057	E068	14196
chr12	83086451	83086506	E068	14803
chr12	83089427	83089523	E068	17779
chr12	83089529	83089650	E068	17881
chr12	83089703	83089759	E068	18055
chr12	83100599	83100649	E068	28951
chr12	83100694	83100744	E068	29046
chr12	83100939	83101300	E068	29291
chr12	83101396	83101633	E068	29748
chr12	83101788	83102841	E068	30140
chr12	83102895	83102978	E068	31247
chr12	83115014	83115064	E068	43366
chr12	83044267	83045000	E069	-26648
chr12	83053447	83053645	E069	-18003
chr12	83053686	83053817	E069	-17831
chr12	83075641	83075695	E069	3993
chr12	83075963	83076003	E069	4315
chr12	83076067	83076422	E069	4419
chr12	83076551	83076950	E069	4903
chr12	83084611	83084661	E069	12963
chr12	83084805	83084859	E069	13157
chr12	83084895	83084945	E069	13247
chr12	83092107	83092306	E069	20459
chr12	83092649	83092732	E069	21001
chr12	83092771	83092837	E069	21123
chr12	83101396	83101633	E069	29748
chr12	83101788	83102841	E069	30140
chr12	83102895	83102978	E069	31247
chr12	83103193	83103239	E069	31545
chr12	83103286	83103406	E069	31638
chr12	83103692	83104106	E069	32044
chr12	83114895	83114970	E069	43247
chr12	83115014	83115064	E069	43366
chr12	83075963	83076003	E070	4315
chr12	83076067	83076422	E070	4419
chr12	83076551	83076950	E070	4903
chr12	83084611	83084661	E070	12963
chr12	83084805	83084859	E070	13157
chr12	83084895	83084945	E070	13247
chr12	83085296	83085598	E070	13648
chr12	83085844	83086057	E070	14196
chr12	83086451	83086506	E070	14803
chr12	83101788	83102841	E070	30140
chr12	83041757	83041835	E071	-29813
chr12	83044267	83045000	E071	-26648
chr12	83057758	83057933	E071	-13715
chr12	83057947	83058015	E071	-13633
chr12	83059220	83059363	E071	-12285
chr12	83085844	83086057	E071	14196
chr12	83088814	83089100	E071	17166
chr12	83089427	83089523	E071	17779
chr12	83089529	83089650	E071	17881
chr12	83092107	83092306	E071	20459
chr12	83092649	83092732	E071	21001
chr12	83100939	83101300	E071	29291
chr12	83101396	83101633	E071	29748
chr12	83101788	83102841	E071	30140
chr12	83102895	83102978	E071	31247
chr12	83103193	83103239	E071	31545
chr12	83114895	83114970	E071	43247
chr12	83115014	83115064	E071	43366
chr12	83044267	83045000	E072	-26648
chr12	83053686	83053817	E072	-17831
chr12	83057355	83057405	E072	-14243
chr12	83057758	83057933	E072	-13715
chr12	83057947	83058015	E072	-13633
chr12	83066965	83067196	E072	-4452
chr12	83075963	83076003	E072	4315
chr12	83076067	83076422	E072	4419
chr12	83076551	83076950	E072	4903
chr12	83089427	83089523	E072	17779
chr12	83092107	83092306	E072	20459
chr12	83099426	83099466	E072	27778
chr12	83101396	83101633	E072	29748
chr12	83101788	83102841	E072	30140
chr12	83102895	83102978	E072	31247
chr12	83057758	83057933	E073	-13715
chr12	83057947	83058015	E073	-13633
chr12	83092107	83092306	E073	20459
chr12	83092649	83092732	E073	21001
chr12	83101788	83102841	E073	30140
chr12	83041757	83041835	E074	-29813
chr12	83044267	83045000	E074	-26648
chr12	83053447	83053645	E074	-18003
chr12	83053686	83053817	E074	-17831
chr12	83057758	83057933	E074	-13715
chr12	83058344	83058394	E074	-13254
chr12	83066965	83067196	E074	-4452
chr12	83075963	83076003	E074	4315
chr12	83076067	83076422	E074	4419
chr12	83076551	83076950	E074	4903
chr12	83085844	83086057	E074	14196
chr12	83086451	83086506	E074	14803
chr12	83088814	83089100	E074	17166
chr12	83089427	83089523	E074	17779
chr12	83089529	83089650	E074	17881
chr12	83089703	83089759	E074	18055
chr12	83092107	83092306	E074	20459
chr12	83092649	83092732	E074	21001
chr12	83092771	83092837	E074	21123
chr12	83099426	83099466	E074	27778
chr12	83099686	83099756	E074	28038
chr12	83099823	83099883	E074	28175
chr12	83100599	83100649	E074	28951
chr12	83100694	83100744	E074	29046
chr12	83100939	83101300	E074	29291
chr12	83101396	83101633	E074	29748
chr12	83101788	83102841	E074	30140
chr12	83102895	83102978	E074	31247
chr12	83103193	83103239	E074	31545
chr12	83103286	83103406	E074	31638
chr12	83103692	83104106	E074	32044
chr12	83075641	83075695	E081	3993
chr12	83075963	83076003	E081	4315
chr12	83076067	83076422	E081	4419
chr12	83085844	83086057	E081	14196
chr12	83076067	83076422	E082	4419
chr12	83076551	83076950	E082	4903
chr12	83085844	83086057	E082	14196
chr12	83092771	83092837	E082	21123

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	83042094	83042312	E067	-29336
chr12	83079312	83082294	E067	7664
chr12	83082295	83082382	E067	10647
chr12	83082454	83082679	E067	10806
chr12	83082690	83082846	E067	11042
chr12	83083192	83083515	E067	11544
chr12	83083636	83083923	E067	11988
chr12	83083956	83084174	E067	12308
chr12	83092881	83093376	E067	21233
chr12	83042094	83042312	E068	-29336
chr12	83079312	83082294	E068	7664
chr12	83082295	83082382	E068	10647
chr12	83082454	83082679	E068	10806
chr12	83082690	83082846	E068	11042
chr12	83083192	83083515	E068	11544
chr12	83083636	83083923	E068	11988
chr12	83083956	83084174	E068	12308
chr12	83092881	83093376	E068	21233
chr12	83042094	83042312	E069	-29336
chr12	83079312	83082294	E069	7664
chr12	83082295	83082382	E069	10647
chr12	83082454	83082679	E069	10806
chr12	83082690	83082846	E069	11042
chr12	83083192	83083515	E069	11544
chr12	83083636	83083923	E069	11988
chr12	83083956	83084174	E069	12308
chr12	83092881	83093376	E069	21233
chr12	83079312	83082294	E070	7664
chr12	83082295	83082382	E070	10647
chr12	83082454	83082679	E070	10806
chr12	83082690	83082846	E070	11042
chr12	83083192	83083515	E070	11544
chr12	83083636	83083923	E070	11988
chr12	83083956	83084174	E070	12308
chr12	83092881	83093376	E070	21233
chr12	83042094	83042312	E071	-29336
chr12	83079312	83082294	E071	7664
chr12	83082295	83082382	E071	10647
chr12	83082454	83082679	E071	10806
chr12	83082690	83082846	E071	11042
chr12	83083192	83083515	E071	11544
chr12	83083636	83083923	E071	11988
chr12	83083956	83084174	E071	12308
chr12	83092881	83093376	E071	21233
chr12	83042094	83042312	E072	-29336
chr12	83079312	83082294	E072	7664
chr12	83082295	83082382	E072	10647
chr12	83082454	83082679	E072	10806
chr12	83082690	83082846	E072	11042
chr12	83083192	83083515	E072	11544
chr12	83083636	83083923	E072	11988
chr12	83083956	83084174	E072	12308
chr12	83092881	83093376	E072	21233
chr12	83079312	83082294	E073	7664
chr12	83082295	83082382	E073	10647
chr12	83082454	83082679	E073	10806
chr12	83082690	83082846	E073	11042
chr12	83083192	83083515	E073	11544
chr12	83083636	83083923	E073	11988
chr12	83083956	83084174	E073	12308
chr12	83092881	83093376	E073	21233
chr12	83079312	83082294	E074	7664
chr12	83082295	83082382	E074	10647
chr12	83082454	83082679	E074	10806
chr12	83082690	83082846	E074	11042
chr12	83083192	83083515	E074	11544
chr12	83083636	83083923	E074	11988
chr12	83083956	83084174	E074	12308
chr12	83092881	83093376	E074	21233
chr12	83079312	83082294	E081	7664
chr12	83082295	83082382	E081	10647
chr12	83082454	83082679	E081	10806
chr12	83082690	83082846	E081	11042
chr12	83079312	83082294	E082	7664
chr12	83082295	83082382	E082	10647
chr12	83082454	83082679	E082	10806
chr12	83082690	83082846	E082	11042
chr12	83083192	83083515	E082	11544
chr12	83083636	83083923	E082	11988
chr12	83083956	83084174	E082	12308