rs6681414

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0413 (12369/29924,GnomAD)
A=0355 (10353/29118,TOPMED)
A=0357 (1790/5008,1000G)
G==0451 (1738/3854,ALSPAC)
G==0441 (1637/3708,TWINSUK)

Position: chr1:31604633 (GRCh38.p7) (1p35.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 154 Enhancers around

Promoter: 62 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.31604633G>A
GRCh37.p13 chr 1	NC_000001.10:g.32070234G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.918	A=0.082
1000Genomes	American	Sub	694	G=0.530	A=0.470
1000Genomes	East Asian	Sub	1008	G=0.752	A=0.248
1000Genomes	Europe	Sub	1006	G=0.435	A=0.565
1000Genomes	Global	Study-wide	5008	G=0.643	A=0.357
1000Genomes	South Asian	Sub	978	G=0.450	A=0.550
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.451	A=0.549
The Genome Aggregation Database	African	Sub	8712	G=0.863	A=0.137
The Genome Aggregation Database	American	Sub	836	G=0.490	A=0.510
The Genome Aggregation Database	East Asian	Sub	1608	G=0.737	A=0.263
The Genome Aggregation Database	Europe	Sub	18468	G=0.450	A=0.549
The Genome Aggregation Database	Global	Study-wide	29924	G=0.586	A=0.413
The Genome Aggregation Database	Other	Sub	300	G=0.400	A=0.600
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.644	A=0.355
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.441	A=0.559

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
rs6681414	0.000247	alcohol consumption (maxi-drinks)	24277619

eQTL of rs6681414 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 rs6681414 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
cg11573219	chr1:32083031	HCRTR1	0.0354184081538472	3.0186e-14

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	32048690	32048751	E067	-21483
chr1	32048809	32048853	E067	-21381
chr1	32048898	32048983	E067	-21251
chr1	32049086	32049126	E067	-21108
chr1	32053276	32053326	E067	-16908
chr1	32091904	32092820	E067	21670
chr1	32092966	32093525	E067	22732
chr1	32093582	32093927	E067	23348
chr1	32105204	32105538	E067	34970
chr1	32105621	32105704	E067	35387
chr1	32105871	32106047	E067	35637
chr1	32106091	32106145	E067	35857
chr1	32106149	32106251	E067	35915
chr1	32106275	32106360	E067	36041
chr1	32106506	32106651	E067	36272
chr1	32108514	32108709	E067	38280
chr1	32108789	32108851	E067	38555
chr1	32108881	32108931	E067	38647
chr1	32109068	32109188	E067	38834
chr1	32049086	32049126	E068	-21108
chr1	32053400	32054042	E068	-16192
chr1	32087992	32088046	E068	17758
chr1	32091735	32091866	E068	21501
chr1	32091904	32092820	E068	21670
chr1	32092966	32093525	E068	22732
chr1	32093582	32093927	E068	23348
chr1	32105001	32105070	E068	34767
chr1	32105088	32105156	E068	34854
chr1	32105204	32105538	E068	34970
chr1	32105621	32105704	E068	35387
chr1	32105871	32106047	E068	35637
chr1	32106091	32106145	E068	35857
chr1	32106149	32106251	E068	35915
chr1	32106275	32106360	E068	36041
chr1	32106506	32106651	E068	36272
chr1	32108301	32108341	E068	38067
chr1	32108514	32108709	E068	38280
chr1	32108789	32108851	E068	38555
chr1	32108881	32108931	E068	38647
chr1	32111757	32111864	E068	41523
chr1	32049086	32049126	E069	-21108
chr1	32049256	32050085	E069	-20149
chr1	32053276	32053326	E069	-16908
chr1	32053400	32054042	E069	-16192
chr1	32091904	32092820	E069	21670
chr1	32092966	32093525	E069	22732
chr1	32093582	32093927	E069	23348
chr1	32094020	32094503	E069	23786
chr1	32105204	32105538	E069	34970
chr1	32109068	32109188	E069	38834
chr1	32111757	32111864	E069	41523
chr1	32039493	32040143	E070	-30091
chr1	32052455	32052593	E070	-17641
chr1	32052767	32052848	E070	-17386
chr1	32084267	32084360	E070	14033
chr1	32087574	32087745	E070	17340
chr1	32091904	32092820	E070	21670
chr1	32108514	32108709	E070	38280
chr1	32108789	32108851	E070	38555
chr1	32108881	32108931	E070	38647
chr1	32109068	32109188	E070	38834
chr1	32029540	32030130	E071	-40104
chr1	32030144	32030500	E071	-39734
chr1	32049256	32050085	E071	-20149
chr1	32050309	32050365	E071	-19869
chr1	32052455	32052593	E071	-17641
chr1	32053400	32054042	E071	-16192
chr1	32091735	32091866	E071	21501
chr1	32091904	32092820	E071	21670
chr1	32092966	32093525	E071	22732
chr1	32093582	32093927	E071	23348
chr1	32094020	32094503	E071	23786
chr1	32104104	32104225	E071	33870
chr1	32104289	32104363	E071	34055
chr1	32109068	32109188	E071	38834
chr1	32111757	32111864	E071	41523
chr1	32029540	32030130	E072	-40104
chr1	32030144	32030500	E072	-39734
chr1	32053400	32054042	E072	-16192
chr1	32087992	32088046	E072	17758
chr1	32091904	32092820	E072	21670
chr1	32092966	32093525	E072	22732
chr1	32093582	32093927	E072	23348
chr1	32109068	32109188	E072	38834
chr1	32039155	32039232	E073	-31002
chr1	32039493	32040143	E073	-30091
chr1	32040218	32040368	E073	-29866
chr1	32040379	32040917	E073	-29317
chr1	32048690	32048751	E073	-21483
chr1	32048809	32048853	E073	-21381
chr1	32048898	32048983	E073	-21251
chr1	32049086	32049126	E073	-21108
chr1	32049256	32050085	E073	-20149
chr1	32051138	32051196	E073	-19038
chr1	32053276	32053326	E073	-16908
chr1	32053400	32054042	E073	-16192
chr1	32059450	32060057	E073	-10177
chr1	32091904	32092820	E073	21670
chr1	32092966	32093525	E073	22732
chr1	32093582	32093927	E073	23348
chr1	32108514	32108709	E073	38280
chr1	32108789	32108851	E073	38555
chr1	32108881	32108931	E073	38647
chr1	32049256	32050085	E074	-20149
chr1	32050309	32050365	E074	-19869
chr1	32053400	32054042	E074	-16192
chr1	32059450	32060057	E074	-10177
chr1	32106506	32106651	E074	36272
chr1	32107505	32107559	E074	37271
chr1	32115849	32116275	E074	45615
chr1	32116338	32117009	E074	46104
chr1	32117284	32117643	E074	47050
chr1	32117698	32117755	E074	47464
chr1	32119343	32119402	E074	49109
chr1	32119625	32119681	E074	49391
chr1	32030144	32030500	E081	-39734
chr1	32039493	32040143	E081	-30091
chr1	32040218	32040368	E081	-29866
chr1	32040379	32040917	E081	-29317
chr1	32044755	32044941	E081	-25293
chr1	32045055	32045439	E081	-24795
chr1	32045455	32045766	E081	-24468
chr1	32045848	32046495	E081	-23739
chr1	32053400	32054042	E081	-16192
chr1	32081279	32081414	E081	11045
chr1	32081563	32081637	E081	11329
chr1	32081678	32081732	E081	11444
chr1	32081978	32082045	E081	11744
chr1	32082181	32082273	E081	11947
chr1	32082452	32082506	E081	12218
chr1	32084267	32084360	E081	14033
chr1	32091092	32091239	E081	20858
chr1	32091286	32091608	E081	21052
chr1	32091735	32091866	E081	21501
chr1	32091904	32092820	E081	21670
chr1	32092966	32093525	E081	22732
chr1	32093582	32093927	E081	23348
chr1	32094020	32094503	E081	23786
chr1	32094576	32095070	E081	24342
chr1	32039493	32040143	E082	-30091
chr1	32045055	32045439	E082	-24795
chr1	32045455	32045766	E082	-24468
chr1	32045848	32046495	E082	-23739
chr1	32047092	32047192	E082	-23042
chr1	32052039	32052118	E082	-18116
chr1	32079874	32080243	E082	9640
chr1	32080266	32080316	E082	10032
chr1	32080373	32080487	E082	10139
chr1	32092966	32093525	E082	22732
chr1	32093582	32093927	E082	23348
chr1	32108789	32108851	E082	38555
chr1	32108881	32108931	E082	38647
chr1	32109068	32109188	E082	38834
chr1	32111757	32111864	E082	41523

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	32042486	32042581	E067	-27653
chr1	32042592	32042864	E067	-27370
chr1	32042884	32042995	E067	-27239
chr1	32043103	32043211	E067	-27023
chr1	32043230	32043826	E067	-26408
chr1	32083337	32084176	E067	13103
chr1	32109601	32111392	E067	39367
chr1	32042486	32042581	E068	-27653
chr1	32042592	32042864	E068	-27370
chr1	32042884	32042995	E068	-27239
chr1	32043103	32043211	E068	-27023
chr1	32043230	32043826	E068	-26408
chr1	32083010	32083184	E068	12776
chr1	32083241	32083297	E068	13007
chr1	32083337	32084176	E068	13103
chr1	32109601	32111392	E068	39367
chr1	32042486	32042581	E069	-27653
chr1	32042592	32042864	E069	-27370
chr1	32042884	32042995	E069	-27239
chr1	32043103	32043211	E069	-27023
chr1	32043230	32043826	E069	-26408
chr1	32083337	32084176	E069	13103
chr1	32109601	32111392	E069	39367
chr1	32083010	32083184	E070	12776
chr1	32083241	32083297	E070	13007
chr1	32109601	32111392	E070	39367
chr1	32042486	32042581	E071	-27653
chr1	32042592	32042864	E071	-27370
chr1	32042884	32042995	E071	-27239
chr1	32043103	32043211	E071	-27023
chr1	32043230	32043826	E071	-26408
chr1	32054318	32055292	E071	-14942
chr1	32083241	32083297	E071	13007
chr1	32083337	32084176	E071	13103
chr1	32109601	32111392	E071	39367
chr1	32042486	32042581	E072	-27653
chr1	32042592	32042864	E072	-27370
chr1	32042884	32042995	E072	-27239
chr1	32043103	32043211	E072	-27023
chr1	32043230	32043826	E072	-26408
chr1	32083241	32083297	E072	13007
chr1	32083337	32084176	E072	13103
chr1	32109601	32111392	E072	39367
chr1	32042486	32042581	E073	-27653
chr1	32042592	32042864	E073	-27370
chr1	32042884	32042995	E073	-27239
chr1	32043103	32043211	E073	-27023
chr1	32043230	32043826	E073	-26408
chr1	32083337	32084176	E073	13103
chr1	32109601	32111392	E073	39367
chr1	32042486	32042581	E074	-27653
chr1	32042592	32042864	E074	-27370
chr1	32042884	32042995	E074	-27239
chr1	32043103	32043211	E074	-27023
chr1	32043230	32043826	E074	-26408
chr1	32083337	32084176	E074	13103
chr1	32109601	32111392	E074	39367
chr1	32109601	32111392	E081	39367
chr1	32083010	32083184	E082	12776
chr1	32083241	32083297	E082	13007
chr1	32083337	32084176	E082	13103
chr1	32109601	32111392	E082	39367