rs522468

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0198 (5937/29904,GnomAD)
T==0187 (5470/29118,TOPMED)
T==0166 (833/5008,1000G)
T==0280 (1080/3854,ALSPAC)
T==0282 (1047/3708,TWINSUK)

Position: chr1:36188076 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 338 Enhancers around

Promoter: 20 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.36188076T>G
GRCh37.p13 chr 1	NC_000001.10:g.36653677T>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.049	G=0.951
1000Genomes	American	Sub	694	T=0.140	G=0.860
1000Genomes	East Asian	Sub	1008	T=0.069	G=0.931
1000Genomes	Europe	Sub	1006	T=0.265	G=0.735
1000Genomes	Global	Study-wide	5008	T=0.166	G=0.834
1000Genomes	South Asian	Sub	978	T=0.340	G=0.660
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.280	G=0.720
The Genome Aggregation Database	African	Sub	8710	T=0.079	G=0.921
The Genome Aggregation Database	American	Sub	838	T=0.140	G=0.860
The Genome Aggregation Database	East Asian	Sub	1618	T=0.072	G=0.928
The Genome Aggregation Database	Europe	Sub	18438	T=0.268	G=0.731
The Genome Aggregation Database	Global	Study-wide	29904	T=0.198	G=0.801
The Genome Aggregation Database	Other	Sub	300	T=0.230	G=0.770
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.187	G=0.812
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.282	G=0.718

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
rs522468	0.00038	alcohol dependence	20201924

eQTL of rs522468 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:36653677	RP11-268J15.5	ENSG00000116883.8	T>G	5.3713e-11	-135658	Cerebellum
Chr1:36653677	SH3D21	ENSG00000214193.5	T>G	4.5512e-13	-118311	Cortex

meQTL of rs522468 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	36607838	36608049	E067	-45628
chr1	36608144	36608194	E067	-45483
chr1	36613707	36613784	E067	-39893
chr1	36616928	36617016	E067	-36661
chr1	36617069	36617886	E067	-35791
chr1	36619902	36620097	E067	-33580
chr1	36620137	36620187	E067	-33490
chr1	36620301	36620364	E067	-33313
chr1	36625043	36625169	E067	-28508
chr1	36628366	36628898	E067	-24779
chr1	36628903	36628943	E067	-24734
chr1	36628962	36629023	E067	-24654
chr1	36629122	36629173	E067	-24504
chr1	36630286	36630424	E067	-23253
chr1	36631304	36631543	E067	-22134
chr1	36631825	36631995	E067	-21682
chr1	36632462	36633214	E067	-20463
chr1	36633462	36633578	E067	-20099
chr1	36633922	36634096	E067	-19581
chr1	36634117	36634229	E067	-19448
chr1	36634273	36634413	E067	-19264
chr1	36635247	36635385	E067	-18292
chr1	36635783	36636262	E067	-17415
chr1	36636310	36636540	E067	-17137
chr1	36638231	36638382	E067	-15295
chr1	36638661	36638913	E067	-14764
chr1	36639587	36639679	E067	-13998
chr1	36639875	36640174	E067	-13503
chr1	36640475	36640701	E067	-12976
chr1	36640778	36640840	E067	-12837
chr1	36640876	36641748	E067	-11929
chr1	36649139	36649357	E067	-4320
chr1	36653326	36654243	E067	0
chr1	36654361	36654411	E067	684
chr1	36654495	36654553	E067	818
chr1	36655308	36655352	E067	1631
chr1	36665731	36666334	E067	12054
chr1	36666584	36666628	E067	12907
chr1	36669037	36669961	E067	15360
chr1	36669991	36670397	E067	16314
chr1	36670456	36670506	E067	16779
chr1	36683154	36683225	E067	29477
chr1	36683324	36683530	E067	29647
chr1	36683535	36683674	E067	29858
chr1	36692630	36692727	E067	38953
chr1	36693342	36693388	E067	39665
chr1	36696459	36696509	E067	42782
chr1	36696996	36697090	E067	43319
chr1	36697176	36697275	E067	43499
chr1	36607838	36608049	E068	-45628
chr1	36608144	36608194	E068	-45483
chr1	36613707	36613784	E068	-39893
chr1	36616928	36617016	E068	-36661
chr1	36617069	36617886	E068	-35791
chr1	36624400	36624566	E068	-29111
chr1	36628366	36628898	E068	-24779
chr1	36628903	36628943	E068	-24734
chr1	36628962	36629023	E068	-24654
chr1	36629122	36629173	E068	-24504
chr1	36630286	36630424	E068	-23253
chr1	36631825	36631995	E068	-21682
chr1	36632462	36633214	E068	-20463
chr1	36633462	36633578	E068	-20099
chr1	36633922	36634096	E068	-19581
chr1	36634117	36634229	E068	-19448
chr1	36634273	36634413	E068	-19264
chr1	36635783	36636262	E068	-17415
chr1	36636310	36636540	E068	-17137
chr1	36637678	36637817	E068	-15860
chr1	36638231	36638382	E068	-15295
chr1	36638661	36638913	E068	-14764
chr1	36639587	36639679	E068	-13998
chr1	36639875	36640174	E068	-13503
chr1	36640475	36640701	E068	-12976
chr1	36640778	36640840	E068	-12837
chr1	36640876	36641748	E068	-11929
chr1	36643076	36643147	E068	-10530
chr1	36653326	36654243	E068	0
chr1	36655308	36655352	E068	1631
chr1	36665731	36666334	E068	12054
chr1	36666584	36666628	E068	12907
chr1	36669037	36669961	E068	15360
chr1	36669991	36670397	E068	16314
chr1	36670456	36670506	E068	16779
chr1	36670943	36671004	E068	17266
chr1	36688549	36688693	E068	34872
chr1	36692630	36692727	E068	38953
chr1	36696459	36696509	E068	42782
chr1	36696996	36697090	E068	43319
chr1	36697176	36697275	E068	43499
chr1	36607838	36608049	E069	-45628
chr1	36608144	36608194	E069	-45483
chr1	36612991	36613066	E069	-40611
chr1	36616928	36617016	E069	-36661
chr1	36617069	36617886	E069	-35791
chr1	36624400	36624566	E069	-29111
chr1	36625043	36625169	E069	-28508
chr1	36628366	36628898	E069	-24779
chr1	36628903	36628943	E069	-24734
chr1	36628962	36629023	E069	-24654
chr1	36629122	36629173	E069	-24504
chr1	36630286	36630424	E069	-23253
chr1	36631304	36631543	E069	-22134
chr1	36631825	36631995	E069	-21682
chr1	36632462	36633214	E069	-20463
chr1	36633462	36633578	E069	-20099
chr1	36633922	36634096	E069	-19581
chr1	36634117	36634229	E069	-19448
chr1	36634273	36634413	E069	-19264
chr1	36635247	36635385	E069	-18292
chr1	36635783	36636262	E069	-17415
chr1	36636310	36636540	E069	-17137
chr1	36636848	36637310	E069	-16367
chr1	36637678	36637817	E069	-15860
chr1	36638231	36638382	E069	-15295
chr1	36638661	36638913	E069	-14764
chr1	36639587	36639679	E069	-13998
chr1	36639875	36640174	E069	-13503
chr1	36640475	36640701	E069	-12976
chr1	36640778	36640840	E069	-12837
chr1	36640876	36641748	E069	-11929
chr1	36649139	36649357	E069	-4320
chr1	36653326	36654243	E069	0
chr1	36654361	36654411	E069	684
chr1	36654495	36654553	E069	818
chr1	36655308	36655352	E069	1631
chr1	36665731	36666334	E069	12054
chr1	36666584	36666628	E069	12907
chr1	36669037	36669961	E069	15360
chr1	36669991	36670397	E069	16314
chr1	36670456	36670506	E069	16779
chr1	36670943	36671004	E069	17266
chr1	36673669	36673719	E069	19992
chr1	36673945	36674030	E069	20268
chr1	36675326	36675376	E069	21649
chr1	36675482	36675586	E069	21805
chr1	36696459	36696509	E069	42782
chr1	36696996	36697090	E069	43319
chr1	36607838	36608049	E070	-45628
chr1	36608144	36608194	E070	-45483
chr1	36620301	36620364	E070	-33313
chr1	36628366	36628898	E070	-24779
chr1	36640778	36640840	E070	-12837
chr1	36670456	36670506	E070	16779
chr1	36670943	36671004	E070	17266
chr1	36673320	36673355	E070	19643
chr1	36688549	36688693	E070	34872
chr1	36692630	36692727	E070	38953
chr1	36606819	36606890	E071	-46787
chr1	36607838	36608049	E071	-45628
chr1	36608144	36608194	E071	-45483
chr1	36613707	36613784	E071	-39893
chr1	36616928	36617016	E071	-36661
chr1	36617069	36617886	E071	-35791
chr1	36618532	36618709	E071	-34968
chr1	36618844	36618909	E071	-34768
chr1	36618957	36619028	E071	-34649
chr1	36619902	36620097	E071	-33580
chr1	36620137	36620187	E071	-33490
chr1	36620301	36620364	E071	-33313
chr1	36625043	36625169	E071	-28508
chr1	36628366	36628898	E071	-24779
chr1	36628903	36628943	E071	-24734
chr1	36628962	36629023	E071	-24654
chr1	36629122	36629173	E071	-24504
chr1	36631304	36631543	E071	-22134
chr1	36631825	36631995	E071	-21682
chr1	36632462	36633214	E071	-20463
chr1	36633462	36633578	E071	-20099
chr1	36633922	36634096	E071	-19581
chr1	36634117	36634229	E071	-19448
chr1	36634273	36634413	E071	-19264
chr1	36635247	36635385	E071	-18292
chr1	36635783	36636262	E071	-17415
chr1	36636310	36636540	E071	-17137
chr1	36638231	36638382	E071	-15295
chr1	36638661	36638913	E071	-14764
chr1	36639587	36639679	E071	-13998
chr1	36639875	36640174	E071	-13503
chr1	36640475	36640701	E071	-12976
chr1	36640778	36640840	E071	-12837
chr1	36640876	36641748	E071	-11929
chr1	36653326	36654243	E071	0
chr1	36655308	36655352	E071	1631
chr1	36665731	36666334	E071	12054
chr1	36666584	36666628	E071	12907
chr1	36669037	36669961	E071	15360
chr1	36669991	36670397	E071	16314
chr1	36670456	36670506	E071	16779
chr1	36670943	36671004	E071	17266
chr1	36672977	36673229	E071	19300
chr1	36696996	36697090	E071	43319
chr1	36697176	36697275	E071	43499
chr1	36607838	36608049	E072	-45628
chr1	36608144	36608194	E072	-45483
chr1	36616928	36617016	E072	-36661
chr1	36617069	36617886	E072	-35791
chr1	36619902	36620097	E072	-33580
chr1	36620137	36620187	E072	-33490
chr1	36620301	36620364	E072	-33313
chr1	36624400	36624566	E072	-29111
chr1	36628366	36628898	E072	-24779
chr1	36628903	36628943	E072	-24734
chr1	36628962	36629023	E072	-24654
chr1	36629122	36629173	E072	-24504
chr1	36630286	36630424	E072	-23253
chr1	36631304	36631543	E072	-22134
chr1	36631825	36631995	E072	-21682
chr1	36632462	36633214	E072	-20463
chr1	36633462	36633578	E072	-20099
chr1	36633922	36634096	E072	-19581
chr1	36634117	36634229	E072	-19448
chr1	36634273	36634413	E072	-19264
chr1	36635247	36635385	E072	-18292
chr1	36635783	36636262	E072	-17415
chr1	36636310	36636540	E072	-17137
chr1	36638231	36638382	E072	-15295
chr1	36638661	36638913	E072	-14764
chr1	36639587	36639679	E072	-13998
chr1	36639875	36640174	E072	-13503
chr1	36640475	36640701	E072	-12976
chr1	36640778	36640840	E072	-12837
chr1	36648746	36648796	E072	-4881
chr1	36649139	36649357	E072	-4320
chr1	36653326	36654243	E072	0
chr1	36655308	36655352	E072	1631
chr1	36665569	36665623	E072	11892
chr1	36665731	36666334	E072	12054
chr1	36666584	36666628	E072	12907
chr1	36669037	36669961	E072	15360
chr1	36669991	36670397	E072	16314
chr1	36670456	36670506	E072	16779
chr1	36670943	36671004	E072	17266
chr1	36672977	36673229	E072	19300
chr1	36675326	36675376	E072	21649
chr1	36683154	36683225	E072	29477
chr1	36683324	36683530	E072	29647
chr1	36683535	36683674	E072	29858
chr1	36692630	36692727	E072	38953
chr1	36696459	36696509	E072	42782
chr1	36696996	36697090	E072	43319
chr1	36697176	36697275	E072	43499
chr1	36703415	36703541	E072	49738
chr1	36607838	36608049	E073	-45628
chr1	36608144	36608194	E073	-45483
chr1	36613707	36613784	E073	-39893
chr1	36616928	36617016	E073	-36661
chr1	36617069	36617886	E073	-35791
chr1	36620301	36620364	E073	-33313
chr1	36625043	36625169	E073	-28508
chr1	36628366	36628898	E073	-24779
chr1	36631304	36631543	E073	-22134
chr1	36631825	36631995	E073	-21682
chr1	36632462	36633214	E073	-20463
chr1	36633462	36633578	E073	-20099
chr1	36633922	36634096	E073	-19581
chr1	36635247	36635385	E073	-18292
chr1	36635783	36636262	E073	-17415
chr1	36636310	36636540	E073	-17137
chr1	36636848	36637310	E073	-16367
chr1	36637678	36637817	E073	-15860
chr1	36638231	36638382	E073	-15295
chr1	36638661	36638913	E073	-14764
chr1	36639587	36639679	E073	-13998
chr1	36639875	36640174	E073	-13503
chr1	36640475	36640701	E073	-12976
chr1	36640778	36640840	E073	-12837
chr1	36640876	36641748	E073	-11929
chr1	36645449	36645508	E073	-8169
chr1	36649139	36649357	E073	-4320
chr1	36665731	36666334	E073	12054
chr1	36666584	36666628	E073	12907
chr1	36669037	36669961	E073	15360
chr1	36669991	36670397	E073	16314
chr1	36688549	36688693	E073	34872
chr1	36696996	36697090	E073	43319
chr1	36697176	36697275	E073	43499
chr1	36607838	36608049	E074	-45628
chr1	36608144	36608194	E074	-45483
chr1	36613707	36613784	E074	-39893
chr1	36616928	36617016	E074	-36661
chr1	36617069	36617886	E074	-35791
chr1	36624400	36624566	E074	-29111
chr1	36625043	36625169	E074	-28508
chr1	36628366	36628898	E074	-24779
chr1	36628903	36628943	E074	-24734
chr1	36628962	36629023	E074	-24654
chr1	36629122	36629173	E074	-24504
chr1	36630286	36630424	E074	-23253
chr1	36631304	36631543	E074	-22134
chr1	36631825	36631995	E074	-21682
chr1	36632462	36633214	E074	-20463
chr1	36633462	36633578	E074	-20099
chr1	36633922	36634096	E074	-19581
chr1	36634117	36634229	E074	-19448
chr1	36634273	36634413	E074	-19264
chr1	36635247	36635385	E074	-18292
chr1	36635783	36636262	E074	-17415
chr1	36636310	36636540	E074	-17137
chr1	36637678	36637817	E074	-15860
chr1	36638231	36638382	E074	-15295
chr1	36638661	36638913	E074	-14764
chr1	36639587	36639679	E074	-13998
chr1	36639875	36640174	E074	-13503
chr1	36640475	36640701	E074	-12976
chr1	36640778	36640840	E074	-12837
chr1	36640876	36641748	E074	-11929
chr1	36653326	36654243	E074	0
chr1	36655308	36655352	E074	1631
chr1	36665569	36665623	E074	11892
chr1	36665731	36666334	E074	12054
chr1	36666584	36666628	E074	12907
chr1	36669037	36669961	E074	15360
chr1	36669991	36670397	E074	16314
chr1	36670456	36670506	E074	16779
chr1	36692630	36692727	E074	38953
chr1	36696459	36696509	E074	42782
chr1	36696996	36697090	E074	43319
chr1	36697176	36697275	E074	43499
chr1	36613707	36613784	E081	-39893
chr1	36620301	36620364	E081	-33313
chr1	36624400	36624566	E081	-29111
chr1	36625043	36625169	E081	-28508
chr1	36640475	36640701	E081	-12976
chr1	36640778	36640840	E081	-12837
chr1	36640876	36641748	E081	-11929
chr1	36669037	36669961	E081	15360
chr1	36669991	36670397	E081	16314
chr1	36620301	36620364	E082	-33313
chr1	36625043	36625169	E082	-28508
chr1	36628366	36628898	E082	-24779
chr1	36639875	36640174	E082	-13503
chr1	36640475	36640701	E082	-12976
chr1	36640778	36640840	E082	-12837
chr1	36669991	36670397	E082	16314
chr1	36670456	36670506	E082	16779
chr1	36688549	36688693	E082	34872
chr1	36692630	36692727	E082	38953

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	36621065	36623204	E067	-30473
chr1	36688762	36691011	E067	35085
chr1	36621065	36623204	E068	-30473
chr1	36688762	36691011	E068	35085
chr1	36621065	36623204	E069	-30473
chr1	36688762	36691011	E069	35085
chr1	36621065	36623204	E070	-30473
chr1	36688762	36691011	E070	35085
chr1	36621065	36623204	E071	-30473
chr1	36688762	36691011	E071	35085
chr1	36621065	36623204	E072	-30473
chr1	36688762	36691011	E072	35085
chr1	36621065	36623204	E073	-30473
chr1	36688762	36691011	E073	35085
chr1	36621065	36623204	E074	-30473
chr1	36688762	36691011	E074	35085
chr1	36621065	36623204	E081	-30473
chr1	36688762	36691011	E081	35085
chr1	36621065	36623204	E082	-30473
chr1	36688762	36691011	E082	35085