rs10521221

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0379 (11353/29932,GnomAD)
C==0455 (13259/29118,TOPMED)
C==0354 (1774/5008,1000G)
C==0256 (988/3854,ALSPAC)
C==0255 (947/3708,TWINSUK)

Position: chr16:51096248 (GRCh38.p7) (16q12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 243 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.51096248C>T
GRCh37.p13 chr 16	NC_000016.9:g.51130159C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.743	T=0.257
1000Genomes	American	Sub	694	C=0.300	T=0.700
1000Genomes	East Asian	Sub	1008	C=0.057	T=0.943
1000Genomes	Europe	Sub	1006	C=0.271	T=0.729
1000Genomes	Global	Study-wide	5008	C=0.354	T=0.646
1000Genomes	South Asian	Sub	978	C=0.260	T=0.740
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.256	T=0.744
The Genome Aggregation Database	African	Sub	8698	C=0.676	T=0.324
The Genome Aggregation Database	American	Sub	834	C=0.260	T=0.740
The Genome Aggregation Database	East Asian	Sub	1620	C=0.068	T=0.932
The Genome Aggregation Database	Europe	Sub	18480	C=0.274	T=0.725
The Genome Aggregation Database	Global	Study-wide	29932	C=0.379	T=0.620
The Genome Aggregation Database	Other	Sub	300	C=0.260	T=0.740
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.455	T=0.544
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.255	T=0.745

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

SNP ID	p-value	Traits	Study
rs10521221	0.000951	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr16	51091035	51091095	E067	-39064
chr16	51129842	51129882	E067	-277
chr16	51129932	51130074	E067	-85
chr16	51130075	51130156	E067	-3
chr16	51130222	51130296	E067	63
chr16	51130474	51130533	E067	315
chr16	51130575	51130746	E067	416
chr16	51148231	51148405	E067	18072
chr16	51148422	51148638	E067	18263
chr16	51152921	51153095	E067	22762
chr16	51153153	51153214	E067	22994
chr16	51153454	51153865	E067	23295
chr16	51175116	51175298	E067	44957
chr16	51179130	51179262	E067	48971
chr16	51091035	51091095	E068	-39064
chr16	51091621	51091702	E068	-38457
chr16	51092513	51092604	E068	-37555
chr16	51129116	51129177	E068	-982
chr16	51129221	51129261	E068	-898
chr16	51129291	51129378	E068	-781
chr16	51129932	51130074	E068	-85
chr16	51130075	51130156	E068	-3
chr16	51130222	51130296	E068	63
chr16	51148231	51148405	E068	18072
chr16	51148422	51148638	E068	18263
chr16	51152921	51153095	E068	22762
chr16	51153153	51153214	E068	22994
chr16	51153454	51153865	E068	23295
chr16	51175116	51175298	E068	44957
chr16	51175342	51175564	E068	45183
chr16	51175586	51175656	E068	45427
chr16	51177649	51177739	E068	47490
chr16	51177778	51177826	E068	47619
chr16	51178189	51178404	E068	48030
chr16	51178543	51178583	E068	48384
chr16	51178769	51178819	E068	48610
chr16	51179130	51179262	E068	48971
chr16	51179278	51179424	E068	49119
chr16	51084016	51084066	E069	-46093
chr16	51084160	51084220	E069	-45939
chr16	51090380	51090430	E069	-39729
chr16	51092765	51092815	E069	-37344
chr16	51129221	51129261	E069	-898
chr16	51129291	51129378	E069	-781
chr16	51129496	51129770	E069	-389
chr16	51129842	51129882	E069	-277
chr16	51129932	51130074	E069	-85
chr16	51130075	51130156	E069	-3
chr16	51130222	51130296	E069	63
chr16	51130474	51130533	E069	315
chr16	51130575	51130746	E069	416
chr16	51146939	51147583	E069	16780
chr16	51148231	51148405	E069	18072
chr16	51148422	51148638	E069	18263
chr16	51148745	51148805	E069	18586
chr16	51152921	51153095	E069	22762
chr16	51153153	51153214	E069	22994
chr16	51153454	51153865	E069	23295
chr16	51154074	51154133	E069	23915
chr16	51171652	51171806	E069	41493
chr16	51172290	51172366	E069	42131
chr16	51172540	51172590	E069	42381
chr16	51172794	51172844	E069	42635
chr16	51173093	51173143	E069	42934
chr16	51173202	51173252	E069	43043
chr16	51175116	51175298	E069	44957
chr16	51175342	51175564	E069	45183
chr16	51176452	51176520	E069	46293
chr16	51176569	51176669	E069	46410
chr16	51176671	51176757	E069	46512
chr16	51176856	51176910	E069	46697
chr16	51176943	51177084	E069	46784
chr16	51177218	51177294	E069	47059
chr16	51177306	51177417	E069	47147
chr16	51177494	51177567	E069	47335
chr16	51177649	51177739	E069	47490
chr16	51177778	51177826	E069	47619
chr16	51178189	51178404	E069	48030
chr16	51178543	51178583	E069	48384
chr16	51178769	51178819	E069	48610
chr16	51179130	51179262	E069	48971
chr16	51179278	51179424	E069	49119
chr16	51179457	51179564	E069	49298
chr16	51179652	51179752	E069	49493
chr16	51179784	51179867	E069	49625
chr16	51106391	51106431	E070	-23728
chr16	51106440	51106662	E070	-23497
chr16	51106732	51106869	E070	-23290
chr16	51129496	51129770	E070	-389
chr16	51129842	51129882	E070	-277
chr16	51129932	51130074	E070	-85
chr16	51130075	51130156	E070	-3
chr16	51130222	51130296	E070	63
chr16	51130474	51130533	E070	315
chr16	51130575	51130746	E070	416
chr16	51146939	51147583	E070	16780
chr16	51148231	51148405	E070	18072
chr16	51148422	51148638	E070	18263
chr16	51148745	51148805	E070	18586
chr16	51163017	51163341	E070	32858
chr16	51163351	51163397	E070	33192
chr16	51166537	51167015	E070	36378
chr16	51167032	51167199	E070	36873
chr16	51169721	51169802	E070	39562
chr16	51173993	51174047	E070	43834
chr16	51174211	51174301	E070	44052
chr16	51174403	51174540	E070	44244
chr16	51174579	51174639	E070	44420
chr16	51174676	51174768	E070	44517
chr16	51176452	51176520	E070	46293
chr16	51082116	51082234	E071	-47925
chr16	51082334	51082423	E071	-47736
chr16	51082457	51082557	E071	-47602
chr16	51082627	51082770	E071	-47389
chr16	51090380	51090430	E071	-39729
chr16	51092513	51092604	E071	-37555
chr16	51092644	51092694	E071	-37465
chr16	51092765	51092815	E071	-37344
chr16	51129221	51129261	E071	-898
chr16	51129291	51129378	E071	-781
chr16	51130474	51130533	E071	315
chr16	51130575	51130746	E071	416
chr16	51148422	51148638	E071	18263
chr16	51148745	51148805	E071	18586
chr16	51152921	51153095	E071	22762
chr16	51153153	51153214	E071	22994
chr16	51153454	51153865	E071	23295
chr16	51171652	51171806	E071	41493
chr16	51175116	51175298	E071	44957
chr16	51175342	51175564	E071	45183
chr16	51175586	51175656	E071	45427
chr16	51175709	51175772	E071	45550
chr16	51176569	51176669	E071	46410
chr16	51176671	51176757	E071	46512
chr16	51176856	51176910	E071	46697
chr16	51176943	51177084	E071	46784
chr16	51177218	51177294	E071	47059
chr16	51177306	51177417	E071	47147
chr16	51178189	51178404	E071	48030
chr16	51178543	51178583	E071	48384
chr16	51178769	51178819	E071	48610
chr16	51179130	51179262	E071	48971
chr16	51179278	51179424	E071	49119
chr16	51179457	51179564	E071	49298
chr16	51179652	51179752	E071	49493
chr16	51179784	51179867	E071	49625
chr16	51091035	51091095	E072	-39064
chr16	51091621	51091702	E072	-38457
chr16	51092513	51092604	E072	-37555
chr16	51092644	51092694	E072	-37465
chr16	51092765	51092815	E072	-37344
chr16	51093434	51093484	E072	-36675
chr16	51093512	51093562	E072	-36597
chr16	51128726	51128832	E072	-1327
chr16	51129116	51129177	E072	-982
chr16	51129221	51129261	E072	-898
chr16	51129291	51129378	E072	-781
chr16	51130075	51130156	E072	-3
chr16	51130222	51130296	E072	63
chr16	51130474	51130533	E072	315
chr16	51130575	51130746	E072	416
chr16	51148231	51148405	E072	18072
chr16	51148422	51148638	E072	18263
chr16	51148745	51148805	E072	18586
chr16	51176569	51176669	E072	46410
chr16	51176671	51176757	E072	46512
chr16	51176856	51176910	E072	46697
chr16	51176943	51177084	E072	46784
chr16	51177218	51177294	E072	47059
chr16	51177306	51177417	E072	47147
chr16	51177494	51177567	E072	47335
chr16	51177649	51177739	E072	47490
chr16	51177778	51177826	E072	47619
chr16	51178189	51178404	E072	48030
chr16	51178543	51178583	E072	48384
chr16	51178769	51178819	E072	48610
chr16	51179130	51179262	E072	48971
chr16	51148231	51148405	E073	18072
chr16	51148422	51148638	E073	18263
chr16	51148745	51148805	E073	18586
chr16	51172540	51172590	E073	42381
chr16	51172794	51172844	E073	42635
chr16	51083703	51083824	E074	-46335
chr16	51083859	51083913	E074	-46246
chr16	51084016	51084066	E074	-46093
chr16	51084160	51084220	E074	-45939
chr16	51090380	51090430	E074	-39729
chr16	51091621	51091702	E074	-38457
chr16	51092513	51092604	E074	-37555
chr16	51092644	51092694	E074	-37465
chr16	51092765	51092815	E074	-37344
chr16	51129221	51129261	E074	-898
chr16	51129291	51129378	E074	-781
chr16	51130222	51130296	E074	63
chr16	51130474	51130533	E074	315
chr16	51130575	51130746	E074	416
chr16	51132253	51132303	E074	2094
chr16	51146939	51147583	E074	16780
chr16	51148745	51148805	E074	18586
chr16	51152921	51153095	E074	22762
chr16	51153153	51153214	E074	22994
chr16	51153454	51153865	E074	23295
chr16	51154074	51154133	E074	23915
chr16	51165665	51165748	E074	35506
chr16	51170937	51171456	E074	40778
chr16	51171652	51171806	E074	41493
chr16	51172290	51172366	E074	42131
chr16	51172540	51172590	E074	42381
chr16	51172794	51172844	E074	42635
chr16	51175116	51175298	E074	44957
chr16	51175342	51175564	E074	45183
chr16	51175586	51175656	E074	45427
chr16	51176569	51176669	E074	46410
chr16	51176671	51176757	E074	46512
chr16	51176856	51176910	E074	46697
chr16	51176943	51177084	E074	46784
chr16	51177218	51177294	E074	47059
chr16	51177306	51177417	E074	47147
chr16	51177494	51177567	E074	47335
chr16	51177649	51177739	E074	47490
chr16	51177778	51177826	E074	47619
chr16	51178189	51178404	E074	48030
chr16	51178543	51178583	E074	48384
chr16	51178769	51178819	E074	48610
chr16	51179130	51179262	E074	48971
chr16	51179278	51179424	E074	49119
chr16	51179457	51179564	E074	49298
chr16	51179652	51179752	E074	49493
chr16	51179784	51179867	E074	49625
chr16	51148231	51148405	E081	18072
chr16	51148422	51148638	E081	18263
chr16	51162740	51163000	E081	32581
chr16	51163017	51163341	E081	32858
chr16	51170937	51171456	E081	40778
chr16	51172540	51172590	E081	42381
chr16	51178769	51178819	E081	48610
chr16	51179130	51179262	E081	48971
chr16	51170937	51171456	E082	40778
chr16	51171652	51171806	E082	41493
chr16	51172290	51172366	E082	42131
chr16	51172540	51172590	E082	42381
chr16	51176569	51176669	E082	46410
chr16	51176671	51176757	E082	46512

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr16	51147636	51147954	E067	17477
chr16	51147636	51147954	E068	17477
chr16	51167669	51168006	E068	37510
chr16	51167669	51168006	E070	37510
chr16	51147636	51147954	E071	17477
chr16	51167669	51168006	E071	37510
chr16	51147636	51147954	E072	17477
chr16	51147636	51147954	E073	17477
chr16	51147636	51147954	E074	17477

rs10521221

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs10521221 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs10521221 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)