rs284301

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0187 (5592/29908,GnomAD)
A=0197 (5759/29118,TOPMED)
A=0179 (894/5008,1000G)
A=0118 (454/3854,ALSPAC)
A=0128 (473/3708,TWINSUK)

Position: chr1:10634068 (GRCh38.p7) (1p36.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 132 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.10634068G>A
GRCh37.p13 chr 1	NC_000001.10:g.10694125G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.688	A=0.312
1000Genomes	American	Sub	694	G=0.870	A=0.130
1000Genomes	East Asian	Sub	1008	G=0.948	A=0.052
1000Genomes	Europe	Sub	1006	G=0.847	A=0.153
1000Genomes	Global	Study-wide	5008	G=0.821	A=0.179
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.882	A=0.118
The Genome Aggregation Database	African	Sub	8686	G=0.726	A=0.274
The Genome Aggregation Database	American	Sub	836	G=0.880	A=0.120
The Genome Aggregation Database	East Asian	Sub	1618	G=0.913	A=0.087
The Genome Aggregation Database	Europe	Sub	18466	G=0.842	A=0.157
The Genome Aggregation Database	Global	Study-wide	29908	G=0.813	A=0.187
The Genome Aggregation Database	Other	Sub	302	G=0.810	A=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.802	A=0.197
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.872	A=0.128

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

P-Value

SNP ID	p-value	Traits	Study
rs284301	1.12E-06	alcohol dependence (age at onset)	24962325

eQTL of rs284301 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 rs284301 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	10674618	10674691	E067	-19434
chr1	10676080	10676130	E067	-17995
chr1	10676190	10676279	E067	-17846
chr1	10723387	10724295	E067	29262
chr1	10725989	10726476	E067	31864
chr1	10658122	10658519	E068	-35606
chr1	10674618	10674691	E068	-19434
chr1	10723387	10724295	E068	29262
chr1	10674618	10674691	E069	-19434
chr1	10676080	10676130	E069	-17995
chr1	10676190	10676279	E069	-17846
chr1	10723387	10724295	E069	29262
chr1	10725626	10725944	E069	31501
chr1	10725989	10726476	E069	31864
chr1	10657285	10657517	E070	-36608
chr1	10657636	10657777	E070	-36348
chr1	10657802	10657902	E070	-36223
chr1	10658122	10658519	E070	-35606
chr1	10658521	10658674	E070	-35451
chr1	10658819	10658900	E070	-35225
chr1	10659286	10659975	E070	-34150
chr1	10675435	10675632	E070	-18493
chr1	10676080	10676130	E070	-17995
chr1	10676190	10676279	E070	-17846
chr1	10676383	10676433	E070	-17692
chr1	10683745	10683802	E070	-10323
chr1	10692059	10692263	E070	-1862
chr1	10692491	10692700	E070	-1425
chr1	10692869	10693116	E070	-1009
chr1	10694645	10695194	E070	520
chr1	10695242	10696319	E070	1117
chr1	10699890	10700675	E070	5765
chr1	10700718	10700866	E070	6593
chr1	10700912	10701033	E070	6787
chr1	10701085	10701135	E070	6960
chr1	10701359	10701479	E070	7234
chr1	10708766	10708816	E070	14641
chr1	10711529	10711737	E070	17404
chr1	10711855	10712174	E070	17730
chr1	10723007	10723313	E070	28882
chr1	10723387	10724295	E070	29262
chr1	10724441	10724697	E070	30316
chr1	10730791	10730871	E070	36666
chr1	10731201	10731514	E070	37076
chr1	10731564	10731686	E070	37439
chr1	10731720	10732119	E070	37595
chr1	10733491	10733680	E070	39366
chr1	10734074	10734134	E070	39949
chr1	10734771	10734824	E070	40646
chr1	10735138	10735403	E070	41013
chr1	10735523	10735640	E070	41398
chr1	10737231	10738061	E070	43106
chr1	10738134	10738259	E070	44009
chr1	10738329	10738466	E070	44204
chr1	10738761	10738860	E070	44636
chr1	10738967	10740291	E070	44842
chr1	10658122	10658519	E071	-35606
chr1	10658521	10658674	E071	-35451
chr1	10674173	10674224	E071	-19901
chr1	10674618	10674691	E071	-19434
chr1	10675435	10675632	E071	-18493
chr1	10676080	10676130	E071	-17995
chr1	10676190	10676279	E071	-17846
chr1	10694645	10695194	E071	520
chr1	10695242	10696319	E071	1117
chr1	10700718	10700866	E071	6593
chr1	10700912	10701033	E071	6787
chr1	10701085	10701135	E071	6960
chr1	10723007	10723313	E071	28882
chr1	10723387	10724295	E071	29262
chr1	10725626	10725944	E071	31501
chr1	10725989	10726476	E071	31864
chr1	10742209	10742367	E071	48084
chr1	10658122	10658519	E072	-35606
chr1	10674618	10674691	E072	-19434
chr1	10676080	10676130	E072	-17995
chr1	10676190	10676279	E072	-17846
chr1	10723007	10723313	E072	28882
chr1	10723387	10724295	E072	29262
chr1	10724441	10724697	E072	30316
chr1	10725626	10725944	E072	31501
chr1	10725989	10726476	E072	31864
chr1	10658122	10658519	E073	-35606
chr1	10694645	10695194	E073	520
chr1	10723007	10723313	E073	28882
chr1	10723387	10724295	E073	29262
chr1	10658122	10658519	E074	-35606
chr1	10674618	10674691	E074	-19434
chr1	10723387	10724295	E074	29262
chr1	10725626	10725944	E074	31501
chr1	10725989	10726476	E074	31864
chr1	10726487	10726755	E074	32362
chr1	10672536	10673120	E081	-21005
chr1	10675435	10675632	E081	-18493
chr1	10676080	10676130	E081	-17995
chr1	10676190	10676279	E081	-17846
chr1	10676383	10676433	E081	-17692
chr1	10695242	10696319	E081	1117
chr1	10699890	10700675	E081	5765
chr1	10700718	10700866	E081	6593
chr1	10700912	10701033	E081	6787
chr1	10711529	10711737	E081	17404
chr1	10711855	10712174	E081	17730
chr1	10722583	10722820	E081	28458
chr1	10722892	10722989	E081	28767
chr1	10723007	10723313	E081	28882
chr1	10723387	10724295	E081	29262
chr1	10724441	10724697	E081	30316
chr1	10731201	10731514	E081	37076
chr1	10731564	10731686	E081	37439
chr1	10731720	10732119	E081	37595
chr1	10733491	10733680	E081	39366
chr1	10737231	10738061	E081	43106
chr1	10738134	10738259	E081	44009
chr1	10738329	10738466	E081	44204
chr1	10738761	10738860	E081	44636
chr1	10738967	10740291	E081	44842
chr1	10742209	10742367	E081	48084
chr1	10742504	10743011	E081	48379
chr1	10743017	10743352	E081	48892
chr1	10743354	10743692	E081	49229
chr1	10652230	10652294	E082	-41831
chr1	10675435	10675632	E082	-18493
chr1	10694645	10695194	E082	520
chr1	10695242	10696319	E082	1117
chr1	10723387	10724295	E082	29262
chr1	10724441	10724697	E082	30316
chr1	10738134	10738259	E082	44009
chr1	10738329	10738466	E082	44204
chr1	10738761	10738860	E082	44636
chr1	10742504	10743011	E082	48379
chr1	10743776	10743895	E082	49651

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	10698813	10698918	E070	4688
chr1	10698970	10699106	E070	4845
chr1	10699129	10699276	E070	5004
chr1	10698304	10698417	E082	4179
chr1	10698437	10698582	E082	4312
chr1	10698617	10698657	E082	4492
chr1	10698725	10698803	E082	4600
chr1	10698813	10698918	E082	4688
chr1	10698970	10699106	E082	4845
chr1	10699129	10699276	E082	5004