rs16822823

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0243 (7297/29944,GnomAD)
G=0251 (7328/29118,TOPMED)
G=0257 (1289/5008,1000G)
G=0219 (843/3854,ALSPAC)
G=0225 (836/3708,TWINSUK)

Position: chr1:36408641 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 142 Enhancers around

Promoter: 32 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.36408641A>G
GRCh37.p13 chr 1	NC_000001.10:g.36874242A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.672	G=0.328
1000Genomes	American	Sub	694	A=0.840	G=0.160
1000Genomes	East Asian	Sub	1008	A=0.735	G=0.265
1000Genomes	Europe	Sub	1006	A=0.788	G=0.212
1000Genomes	Global	Study-wide	5008	A=0.743	G=0.257
1000Genomes	South Asian	Sub	978	A=0.730	G=0.270
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.781	G=0.219
The Genome Aggregation Database	African	Sub	8716	A=0.683	G=0.317
The Genome Aggregation Database	American	Sub	836	A=0.850	G=0.150
The Genome Aggregation Database	East Asian	Sub	1618	A=0.759	G=0.241
The Genome Aggregation Database	Europe	Sub	18474	A=0.785	G=0.214
The Genome Aggregation Database	Global	Study-wide	29944	A=0.756	G=0.243
The Genome Aggregation Database	Other	Sub	300	A=0.800	G=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.748	G=0.251
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.775	G=0.225

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs16822823	0.000744	alcohol dependence	21314694

eQTL of rs16822823 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:36874242	OSCP1	ENSG00000116885.14	A>G	1.2697e-7	-41844	Cerebellum
Chr1:36874242	OSCP1	ENSG00000116885.14	A>G	1.7045e-6	-41844	Cortex
Chr1:36874242	OSCP1	ENSG00000116885.14	A>G	1.9147e-6	-41844	Caudate_basal_ganglia
Chr1:36874242	OSCP1	ENSG00000116885.14	A>G	7.7818e-3	-41844	Anterior_cingulate_cortex

meQTL of rs16822823 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	36830886	36831432	E067	-42810
chr1	36831687	36832337	E067	-41905
chr1	36832362	36832412	E067	-41830
chr1	36834499	36835173	E067	-39069
chr1	36835243	36835494	E067	-38748
chr1	36835545	36835635	E067	-38607
chr1	36838282	36838530	E067	-35712
chr1	36848835	36849085	E067	-25157
chr1	36849122	36849166	E067	-25076
chr1	36849226	36849307	E067	-24935
chr1	36849477	36849583	E067	-24659
chr1	36830886	36831432	E068	-42810
chr1	36832362	36832412	E068	-41830
chr1	36834499	36835173	E068	-39069
chr1	36835243	36835494	E068	-38748
chr1	36835545	36835635	E068	-38607
chr1	36838282	36838530	E068	-35712
chr1	36848835	36849085	E068	-25157
chr1	36849122	36849166	E068	-25076
chr1	36849226	36849307	E068	-24935
chr1	36849477	36849583	E068	-24659
chr1	36886082	36886288	E068	11840
chr1	36886328	36886841	E068	12086
chr1	36914148	36914228	E068	39906
chr1	36914309	36914612	E068	40067
chr1	36830886	36831432	E069	-42810
chr1	36832362	36832412	E069	-41830
chr1	36834499	36835173	E069	-39069
chr1	36838282	36838530	E069	-35712
chr1	36848835	36849085	E069	-25157
chr1	36849122	36849166	E069	-25076
chr1	36849226	36849307	E069	-24935
chr1	36849477	36849583	E069	-24659
chr1	36861871	36861993	E069	-12249
chr1	36830886	36831432	E070	-42810
chr1	36832362	36832412	E070	-41830
chr1	36832723	36833014	E070	-41228
chr1	36848835	36849085	E070	-25157
chr1	36849122	36849166	E070	-25076
chr1	36914148	36914228	E070	39906
chr1	36914309	36914612	E070	40067
chr1	36830886	36831432	E071	-42810
chr1	36832362	36832412	E071	-41830
chr1	36834499	36835173	E071	-39069
chr1	36837847	36837958	E071	-36284
chr1	36838085	36838145	E071	-36097
chr1	36838282	36838530	E071	-35712
chr1	36848835	36849085	E071	-25157
chr1	36849122	36849166	E071	-25076
chr1	36849226	36849307	E071	-24935
chr1	36849477	36849583	E071	-24659
chr1	36862203	36862312	E071	-11930
chr1	36886082	36886288	E071	11840
chr1	36886328	36886841	E071	12086
chr1	36830886	36831432	E072	-42810
chr1	36832362	36832412	E072	-41830
chr1	36834499	36835173	E072	-39069
chr1	36846612	36846738	E072	-27504
chr1	36848835	36849085	E072	-25157
chr1	36849122	36849166	E072	-25076
chr1	36849226	36849307	E072	-24935
chr1	36849477	36849583	E072	-24659
chr1	36886082	36886288	E072	11840
chr1	36886328	36886841	E072	12086
chr1	36825395	36825499	E073	-48743
chr1	36830886	36831432	E073	-42810
chr1	36832362	36832412	E073	-41830
chr1	36832723	36833014	E073	-41228
chr1	36834499	36835173	E073	-39069
chr1	36835243	36835494	E073	-38748
chr1	36835545	36835635	E073	-38607
chr1	36835641	36835785	E073	-38457
chr1	36835955	36836085	E073	-38157
chr1	36838282	36838530	E073	-35712
chr1	36841741	36842129	E073	-32113
chr1	36842142	36842237	E073	-32005
chr1	36843218	36843676	E073	-30566
chr1	36848835	36849085	E073	-25157
chr1	36849122	36849166	E073	-25076
chr1	36849226	36849307	E073	-24935
chr1	36849477	36849583	E073	-24659
chr1	36857014	36857095	E073	-17147
chr1	36857288	36857342	E073	-16900
chr1	36859702	36859756	E073	-14486
chr1	36914148	36914228	E073	39906
chr1	36914309	36914612	E073	40067
chr1	36830886	36831432	E074	-42810
chr1	36831687	36832337	E074	-41905
chr1	36832362	36832412	E074	-41830
chr1	36834499	36835173	E074	-39069
chr1	36835243	36835494	E074	-38748
chr1	36835545	36835635	E074	-38607
chr1	36845938	36846199	E074	-28043
chr1	36846339	36846513	E074	-27729
chr1	36849226	36849307	E074	-24935
chr1	36849477	36849583	E074	-24659
chr1	36854250	36854320	E074	-19922
chr1	36862203	36862312	E074	-11930
chr1	36824243	36824654	E081	-49588
chr1	36824976	36825352	E081	-48890
chr1	36825395	36825499	E081	-48743
chr1	36825509	36825997	E081	-48245
chr1	36826174	36826236	E081	-48006
chr1	36826922	36827011	E081	-47231
chr1	36830490	36830547	E081	-43695
chr1	36831687	36832337	E081	-41905
chr1	36832362	36832412	E081	-41830
chr1	36832723	36833014	E081	-41228
chr1	36833076	36833152	E081	-41090
chr1	36834499	36835173	E081	-39069
chr1	36835243	36835494	E081	-38748
chr1	36848835	36849085	E081	-25157
chr1	36849122	36849166	E081	-25076
chr1	36849226	36849307	E081	-24935
chr1	36849477	36849583	E081	-24659
chr1	36854250	36854320	E081	-19922
chr1	36854729	36854802	E081	-19440
chr1	36854977	36855161	E081	-19081
chr1	36855473	36855641	E081	-18601
chr1	36861871	36861993	E081	-12249
chr1	36862203	36862312	E081	-11930
chr1	36867630	36867690	E081	-6552
chr1	36867882	36867932	E081	-6310
chr1	36868094	36868454	E081	-5788
chr1	36824243	36824654	E082	-49588
chr1	36824976	36825352	E082	-48890
chr1	36825395	36825499	E082	-48743
chr1	36825509	36825997	E082	-48245
chr1	36826174	36826236	E082	-48006
chr1	36832362	36832412	E082	-41830
chr1	36832723	36833014	E082	-41228
chr1	36833076	36833152	E082	-41090
chr1	36833474	36833564	E082	-40678
chr1	36833585	36833705	E082	-40537
chr1	36833834	36833878	E082	-40364
chr1	36833910	36833954	E082	-40288
chr1	36834259	36834299	E082	-39943
chr1	36834499	36835173	E082	-39069
chr1	36849226	36849307	E082	-24935
chr1	36849477	36849583	E082	-24659
chr1	36867630	36867690	E082	-6552
chr1	36914309	36914612	E082	40067

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	36850096	36853817	E067	-20425
chr1	36862763	36864077	E067	-10165
chr1	36915510	36916867	E067	41268
chr1	36850096	36853817	E068	-20425
chr1	36862763	36864077	E068	-10165
chr1	36866204	36867406	E068	-6836
chr1	36915510	36916867	E068	41268
chr1	36850096	36853817	E069	-20425
chr1	36862763	36864077	E069	-10165
chr1	36866204	36867406	E069	-6836
chr1	36915510	36916867	E069	41268
chr1	36850096	36853817	E070	-20425
chr1	36862763	36864077	E070	-10165
chr1	36915510	36916867	E070	41268
chr1	36850096	36853817	E071	-20425
chr1	36862763	36864077	E071	-10165
chr1	36866204	36867406	E071	-6836
chr1	36915510	36916867	E071	41268
chr1	36850096	36853817	E072	-20425
chr1	36862763	36864077	E072	-10165
chr1	36915510	36916867	E072	41268
chr1	36850096	36853817	E073	-20425
chr1	36862763	36864077	E073	-10165
chr1	36915510	36916867	E073	41268
chr1	36850096	36853817	E074	-20425
chr1	36862763	36864077	E074	-10165
chr1	36915510	36916867	E074	41268
chr1	36862763	36864077	E081	-10165
chr1	36915510	36916867	E081	41268
chr1	36850096	36853817	E082	-20425
chr1	36862763	36864077	E082	-10165
chr1	36915510	36916867	E082	41268