rs675065

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0189 (5683/29960,GnomAD)
G=0177 (5176/29116,TOPMED)
G=0223 (1115/5008,1000G)
G=0088 (341/3854,ALSPAC)
G=0102 (377/3708,TWINSUK)

Position: chr1:212461241 (GRCh38.p7) (1q32.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 310 Enhancers around

Promoter: 27 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.212461241A>G
GRCh37.p13 chr 1	NC_000001.10:g.212634583A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.719	G=0.281
1000Genomes	American	Sub	694	A=0.730	G=0.270
1000Genomes	East Asian	Sub	1008	A=0.574	G=0.426
1000Genomes	Europe	Sub	1006	A=0.904	G=0.096
1000Genomes	Global	Study-wide	5008	A=0.777	G=0.223
1000Genomes	South Asian	Sub	978	A=0.970	G=0.030
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.912	G=0.088
The Genome Aggregation Database	African	Sub	8714	A=0.721	G=0.279
The Genome Aggregation Database	American	Sub	838	A=0.750	G=0.250
The Genome Aggregation Database	East Asian	Sub	1622	A=0.542	G=0.458
The Genome Aggregation Database	Europe	Sub	18484	A=0.878	G=0.121
The Genome Aggregation Database	Global	Study-wide	29960	A=0.810	G=0.189
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.822	G=0.177
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.898	G=0.102

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
rs675065	0.000426	alcohol dependence	24277619

eQTL of rs675065 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 rs675065 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	212585838	212585911	E067	-48672
chr1	212586277	212586356	E067	-48227
chr1	212586550	212586640	E067	-47943
chr1	212589400	212589501	E067	-45082
chr1	212589852	212589937	E067	-44646
chr1	212590008	212590058	E067	-44525
chr1	212590608	212590730	E067	-43853
chr1	212598790	212598900	E067	-35683
chr1	212603792	212604098	E067	-30485
chr1	212610759	212610817	E067	-23766
chr1	212610857	212611007	E067	-23576
chr1	212613925	212614122	E067	-20461
chr1	212614181	212614231	E067	-20352
chr1	212623785	212624377	E067	-10206
chr1	212624418	212624619	E067	-9964
chr1	212624742	212624786	E067	-9797
chr1	212624945	212625001	E067	-9582
chr1	212626030	212626100	E067	-8483
chr1	212626181	212626678	E067	-7905
chr1	212629021	212629061	E067	-5522
chr1	212629134	212629795	E067	-4788
chr1	212629847	212630004	E067	-4579
chr1	212630469	212630519	E067	-4064
chr1	212630580	212630642	E067	-3941
chr1	212631674	212631724	E067	-2859
chr1	212632275	212632399	E067	-2184
chr1	212632618	212632748	E067	-1835
chr1	212632856	212633543	E067	-1040
chr1	212635446	212635501	E067	863
chr1	212641105	212641501	E067	6522
chr1	212641537	212641766	E067	6954
chr1	212643169	212643907	E067	8586
chr1	212643984	212644072	E067	9401
chr1	212644131	212644215	E067	9548
chr1	212661696	212662575	E067	27113
chr1	212662716	212662926	E067	28133
chr1	212669318	212669427	E067	34735
chr1	212671614	212671917	E067	37031
chr1	212672158	212672318	E067	37575
chr1	212680170	212680323	E067	45587
chr1	212680803	212680970	E067	46220
chr1	212585838	212585911	E068	-48672
chr1	212586277	212586356	E068	-48227
chr1	212589400	212589501	E068	-45082
chr1	212589852	212589937	E068	-44646
chr1	212590008	212590058	E068	-44525
chr1	212604818	212604939	E068	-29644
chr1	212605052	212605197	E068	-29386
chr1	212610759	212610817	E068	-23766
chr1	212610857	212611007	E068	-23576
chr1	212613925	212614122	E068	-20461
chr1	212614181	212614231	E068	-20352
chr1	212623785	212624377	E068	-10206
chr1	212624418	212624619	E068	-9964
chr1	212624742	212624786	E068	-9797
chr1	212624945	212625001	E068	-9582
chr1	212625293	212625337	E068	-9246
chr1	212625385	212625456	E068	-9127
chr1	212626030	212626100	E068	-8483
chr1	212626181	212626678	E068	-7905
chr1	212629021	212629061	E068	-5522
chr1	212629134	212629795	E068	-4788
chr1	212629847	212630004	E068	-4579
chr1	212630469	212630519	E068	-4064
chr1	212630580	212630642	E068	-3941
chr1	212631144	212631493	E068	-3090
chr1	212631529	212631609	E068	-2974
chr1	212631674	212631724	E068	-2859
chr1	212632275	212632399	E068	-2184
chr1	212632856	212633543	E068	-1040
chr1	212635446	212635501	E068	863
chr1	212636724	212636970	E068	2141
chr1	212640123	212641098	E068	5540
chr1	212641105	212641501	E068	6522
chr1	212641537	212641766	E068	6954
chr1	212641832	212641958	E068	7249
chr1	212642725	212642769	E068	8142
chr1	212643169	212643907	E068	8586
chr1	212643984	212644072	E068	9401
chr1	212644131	212644215	E068	9548
chr1	212661696	212662575	E068	27113
chr1	212662716	212662926	E068	28133
chr1	212669318	212669427	E068	34735
chr1	212680170	212680323	E068	45587
chr1	212586277	212586356	E069	-48227
chr1	212589400	212589501	E069	-45082
chr1	212589852	212589937	E069	-44646
chr1	212590008	212590058	E069	-44525
chr1	212590608	212590730	E069	-43853
chr1	212604818	212604939	E069	-29644
chr1	212605052	212605197	E069	-29386
chr1	212610759	212610817	E069	-23766
chr1	212610857	212611007	E069	-23576
chr1	212612251	212612538	E069	-22045
chr1	212613925	212614122	E069	-20461
chr1	212614181	212614231	E069	-20352
chr1	212623785	212624377	E069	-10206
chr1	212624418	212624619	E069	-9964
chr1	212624742	212624786	E069	-9797
chr1	212624945	212625001	E069	-9582
chr1	212625293	212625337	E069	-9246
chr1	212625385	212625456	E069	-9127
chr1	212626030	212626100	E069	-8483
chr1	212626181	212626678	E069	-7905
chr1	212627378	212627428	E069	-7155
chr1	212627532	212627665	E069	-6918
chr1	212629021	212629061	E069	-5522
chr1	212629134	212629795	E069	-4788
chr1	212629847	212630004	E069	-4579
chr1	212630469	212630519	E069	-4064
chr1	212630580	212630642	E069	-3941
chr1	212631144	212631493	E069	-3090
chr1	212632275	212632399	E069	-2184
chr1	212632618	212632748	E069	-1835
chr1	212632856	212633543	E069	-1040
chr1	212635446	212635501	E069	863
chr1	212636724	212636970	E069	2141
chr1	212637025	212637317	E069	2442
chr1	212640123	212641098	E069	5540
chr1	212641105	212641501	E069	6522
chr1	212641537	212641766	E069	6954
chr1	212641832	212641958	E069	7249
chr1	212642725	212642769	E069	8142
chr1	212643169	212643907	E069	8586
chr1	212643984	212644072	E069	9401
chr1	212644131	212644215	E069	9548
chr1	212650411	212650881	E069	15828
chr1	212661696	212662575	E069	27113
chr1	212662716	212662926	E069	28133
chr1	212680170	212680323	E069	45587
chr1	212586277	212586356	E070	-48227
chr1	212586550	212586640	E070	-47943
chr1	212623785	212624377	E070	-10206
chr1	212626030	212626100	E070	-8483
chr1	212626181	212626678	E070	-7905
chr1	212585838	212585911	E071	-48672
chr1	212586277	212586356	E071	-48227
chr1	212589400	212589501	E071	-45082
chr1	212589852	212589937	E071	-44646
chr1	212590008	212590058	E071	-44525
chr1	212603792	212604098	E071	-30485
chr1	212604214	212604297	E071	-30286
chr1	212604425	212604618	E071	-29965
chr1	212604676	212604749	E071	-29834
chr1	212604818	212604939	E071	-29644
chr1	212613925	212614122	E071	-20461
chr1	212614181	212614231	E071	-20352
chr1	212623785	212624377	E071	-10206
chr1	212624418	212624619	E071	-9964
chr1	212624742	212624786	E071	-9797
chr1	212624945	212625001	E071	-9582
chr1	212625293	212625337	E071	-9246
chr1	212625385	212625456	E071	-9127
chr1	212626030	212626100	E071	-8483
chr1	212626181	212626678	E071	-7905
chr1	212627378	212627428	E071	-7155
chr1	212627532	212627665	E071	-6918
chr1	212629021	212629061	E071	-5522
chr1	212629134	212629795	E071	-4788
chr1	212629847	212630004	E071	-4579
chr1	212630469	212630519	E071	-4064
chr1	212630580	212630642	E071	-3941
chr1	212631144	212631493	E071	-3090
chr1	212631529	212631609	E071	-2974
chr1	212631674	212631724	E071	-2859
chr1	212632275	212632399	E071	-2184
chr1	212632618	212632748	E071	-1835
chr1	212632856	212633543	E071	-1040
chr1	212635446	212635501	E071	863
chr1	212636724	212636970	E071	2141
chr1	212637025	212637317	E071	2442
chr1	212640123	212641098	E071	5540
chr1	212641105	212641501	E071	6522
chr1	212641537	212641766	E071	6954
chr1	212642725	212642769	E071	8142
chr1	212643169	212643907	E071	8586
chr1	212643984	212644072	E071	9401
chr1	212644131	212644215	E071	9548
chr1	212659088	212660111	E071	24505
chr1	212661410	212661509	E071	26827
chr1	212661696	212662575	E071	27113
chr1	212662716	212662926	E071	28133
chr1	212669318	212669427	E071	34735
chr1	212670209	212670298	E071	35626
chr1	212680170	212680323	E071	45587
chr1	212680803	212680970	E071	46220
chr1	212586277	212586356	E072	-48227
chr1	212589400	212589501	E072	-45082
chr1	212589852	212589937	E072	-44646
chr1	212590008	212590058	E072	-44525
chr1	212590608	212590730	E072	-43853
chr1	212612251	212612538	E072	-22045
chr1	212613925	212614122	E072	-20461
chr1	212614181	212614231	E072	-20352
chr1	212623785	212624377	E072	-10206
chr1	212624418	212624619	E072	-9964
chr1	212624742	212624786	E072	-9797
chr1	212624945	212625001	E072	-9582
chr1	212625293	212625337	E072	-9246
chr1	212625385	212625456	E072	-9127
chr1	212626030	212626100	E072	-8483
chr1	212626181	212626678	E072	-7905
chr1	212629021	212629061	E072	-5522
chr1	212629134	212629795	E072	-4788
chr1	212629847	212630004	E072	-4579
chr1	212630469	212630519	E072	-4064
chr1	212630580	212630642	E072	-3941
chr1	212632856	212633543	E072	-1040
chr1	212635446	212635501	E072	863
chr1	212636724	212636970	E072	2141
chr1	212640123	212641098	E072	5540
chr1	212641105	212641501	E072	6522
chr1	212641537	212641766	E072	6954
chr1	212643169	212643907	E072	8586
chr1	212643984	212644072	E072	9401
chr1	212644131	212644215	E072	9548
chr1	212645369	212645419	E072	10786
chr1	212650411	212650881	E072	15828
chr1	212651035	212651637	E072	16452
chr1	212659088	212660111	E072	24505
chr1	212660190	212660240	E072	25607
chr1	212661696	212662575	E072	27113
chr1	212662716	212662926	E072	28133
chr1	212669318	212669427	E072	34735
chr1	212679778	212679828	E072	45195
chr1	212680170	212680323	E072	45587
chr1	212585838	212585911	E073	-48672
chr1	212586277	212586356	E073	-48227
chr1	212589400	212589501	E073	-45082
chr1	212589852	212589937	E073	-44646
chr1	212590008	212590058	E073	-44525
chr1	212613925	212614122	E073	-20461
chr1	212614181	212614231	E073	-20352
chr1	212623785	212624377	E073	-10206
chr1	212624418	212624619	E073	-9964
chr1	212624742	212624786	E073	-9797
chr1	212624945	212625001	E073	-9582
chr1	212626030	212626100	E073	-8483
chr1	212626181	212626678	E073	-7905
chr1	212627378	212627428	E073	-7155
chr1	212629021	212629061	E073	-5522
chr1	212629134	212629795	E073	-4788
chr1	212629847	212630004	E073	-4579
chr1	212630469	212630519	E073	-4064
chr1	212630580	212630642	E073	-3941
chr1	212631144	212631493	E073	-3090
chr1	212640123	212641098	E073	5540
chr1	212641105	212641501	E073	6522
chr1	212641537	212641766	E073	6954
chr1	212643169	212643907	E073	8586
chr1	212643984	212644072	E073	9401
chr1	212644131	212644215	E073	9548
chr1	212650411	212650881	E073	15828
chr1	212655386	212655668	E073	20803
chr1	212661696	212662575	E073	27113
chr1	212662716	212662926	E073	28133
chr1	212585838	212585911	E074	-48672
chr1	212586277	212586356	E074	-48227
chr1	212586550	212586640	E074	-47943
chr1	212589400	212589501	E074	-45082
chr1	212589852	212589937	E074	-44646
chr1	212590008	212590058	E074	-44525
chr1	212590608	212590730	E074	-43853
chr1	212613925	212614122	E074	-20461
chr1	212614181	212614231	E074	-20352
chr1	212615875	212615995	E074	-18588
chr1	212623785	212624377	E074	-10206
chr1	212624418	212624619	E074	-9964
chr1	212624742	212624786	E074	-9797
chr1	212624945	212625001	E074	-9582
chr1	212625293	212625337	E074	-9246
chr1	212625385	212625456	E074	-9127
chr1	212626030	212626100	E074	-8483
chr1	212626181	212626678	E074	-7905
chr1	212629021	212629061	E074	-5522
chr1	212629134	212629795	E074	-4788
chr1	212629847	212630004	E074	-4579
chr1	212630469	212630519	E074	-4064
chr1	212630580	212630642	E074	-3941
chr1	212631144	212631493	E074	-3090
chr1	212632856	212633543	E074	-1040
chr1	212635446	212635501	E074	863
chr1	212636724	212636970	E074	2141
chr1	212640123	212641098	E074	5540
chr1	212641105	212641501	E074	6522
chr1	212641537	212641766	E074	6954
chr1	212643169	212643907	E074	8586
chr1	212643984	212644072	E074	9401
chr1	212644131	212644215	E074	9548
chr1	212645369	212645419	E074	10786
chr1	212650411	212650881	E074	15828
chr1	212651035	212651637	E074	16452
chr1	212661410	212661509	E074	26827
chr1	212661696	212662575	E074	27113
chr1	212662716	212662926	E074	28133
chr1	212669318	212669427	E074	34735
chr1	212680170	212680323	E074	45587
chr1	212586277	212586356	E081	-48227
chr1	212586550	212586640	E081	-47943
chr1	212624418	212624619	E081	-9964
chr1	212626030	212626100	E081	-8483
chr1	212626181	212626678	E081	-7905
chr1	212627378	212627428	E081	-7155
chr1	212629021	212629061	E081	-5522
chr1	212629134	212629795	E081	-4788
chr1	212629847	212630004	E081	-4579
chr1	212643169	212643907	E081	8586
chr1	212626030	212626100	E082	-8483
chr1	212626181	212626678	E082	-7905
chr1	212629134	212629795	E082	-4788

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	212587321	212589193	E067	-45390
chr1	212605917	212606595	E067	-27988
chr1	212606606	212607015	E067	-27568
chr1	212587321	212589193	E068	-45390
chr1	212605917	212606595	E068	-27988
chr1	212606606	212607015	E068	-27568
chr1	212587321	212589193	E069	-45390
chr1	212605917	212606595	E069	-27988
chr1	212606606	212607015	E069	-27568
chr1	212605917	212606595	E070	-27988
chr1	212606606	212607015	E070	-27568
chr1	212587321	212589193	E071	-45390
chr1	212605917	212606595	E071	-27988
chr1	212606606	212607015	E071	-27568
chr1	212587321	212589193	E072	-45390
chr1	212605917	212606595	E072	-27988
chr1	212606606	212607015	E072	-27568
chr1	212587321	212589193	E073	-45390
chr1	212605917	212606595	E073	-27988
chr1	212606606	212607015	E073	-27568
chr1	212587321	212589193	E074	-45390
chr1	212605917	212606595	E074	-27988
chr1	212606606	212607015	E074	-27568
chr1	212605917	212606595	E081	-27988
chr1	212587321	212589193	E082	-45390
chr1	212605917	212606595	E082	-27988
chr1	212606606	212607015	E082	-27568