rs2190305

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CREB5 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0165 (4917/29650,GnomAD)
A==0131 (3834/29118,TOPMED)
A==0222 (1114/5008,1000G)
A==0165 (635/3854,ALSPAC)
A==0156 (580/3708,TWINSUK)

Position: chr7:28819833 (GRCh38.p7) (7p14.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 314 Enhancers around

Promoter: 16 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.28819833A>G
GRCh37.p13 chr 7	NC_000007.13:g.28859450A>G

Gene: CREB5, cAMP responsive element binding protein 5(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CREB5 transcript variant 2	NM_004904.3:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant 1	NM_182898.3:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant 3	NM_182899.4:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant 4	NM_001011666.2:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X4	XM_005249906.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X1	XM_017012806.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X2	XM_017012807.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X3	XM_017012808.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X5	XM_017012809.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X7	XM_017012810.1:c.	N/A	3 Prime UTR Variant
CREB5 transcript variant X9	XM_011515618.2:c.	N/A	Genic Downstream Transcript Variant
CREB5 transcript variant X7	XR_001744893.1:n....XR_001744893.1:n.1852A>G	A>G	Non Coding Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.039	G=0.961
1000Genomes	American	Sub	694	A=0.290	G=0.710
1000Genomes	East Asian	Sub	1008	A=0.565	G=0.435
1000Genomes	Europe	Sub	1006	A=0.157	G=0.843
1000Genomes	Global	Study-wide	5008	A=0.222	G=0.778
1000Genomes	South Asian	Sub	978	A=0.140	G=0.860
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.165	G=0.835
The Genome Aggregation Database	African	Sub	8686	A=0.052	G=0.948
The Genome Aggregation Database	American	Sub	830	A=0.320	G=0.680
The Genome Aggregation Database	East Asian	Sub	1588	A=0.582	G=0.418
The Genome Aggregation Database	Europe	Sub	18244	A=0.176	G=0.823
The Genome Aggregation Database	Global	Study-wide	29650	A=0.165	G=0.834
The Genome Aggregation Database	Other	Sub	302	A=0.160	G=0.840
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.131	G=0.868
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.156	G=0.844

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
24098343	Genome-wide association study of gene by smoking interactions in coronary artery calcification.	Polfus LM	PLoS One

P-Value

SNP ID	p-value	Traits	Study
rs2190305	0.000901	alcohol dependence	20201924

eQTL of rs2190305 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 rs2190305 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 )
chr7	28809501	28809565	E067	-49885
chr7	28809963	28810031	E067	-49419
chr7	28819819	28819943	E067	-39507
chr7	28822331	28822425	E067	-37025
chr7	28822431	28822543	E067	-36907
chr7	28823481	28823582	E067	-35868
chr7	28823638	28824711	E067	-34739
chr7	28824736	28825235	E067	-34215
chr7	28826809	28827021	E067	-32429
chr7	28827401	28827445	E067	-32005
chr7	28827686	28827825	E067	-31625
chr7	28827877	28827917	E067	-31533
chr7	28828169	28828258	E067	-31192
chr7	28828314	28828436	E067	-31014
chr7	28828604	28828664	E067	-30786
chr7	28832349	28832435	E067	-27015
chr7	28832444	28832583	E067	-26867
chr7	28832707	28832860	E067	-26590
chr7	28832999	28833691	E067	-25759
chr7	28838780	28838874	E067	-20576
chr7	28839384	28839508	E067	-19942
chr7	28839634	28839714	E067	-19736
chr7	28839864	28840031	E067	-19419
chr7	28851033	28851113	E067	-8337
chr7	28851468	28852151	E067	-7299
chr7	28852261	28852342	E067	-7108
chr7	28852350	28852579	E067	-6871
chr7	28852611	28852845	E067	-6605
chr7	28852852	28853528	E067	-5922
chr7	28864988	28865048	E067	5538
chr7	28865141	28865191	E067	5691
chr7	28865820	28865886	E067	6370
chr7	28866152	28866233	E067	6702
chr7	28866296	28866352	E067	6846
chr7	28811958	28812018	E068	-47432
chr7	28812087	28812174	E068	-47276
chr7	28812484	28812615	E068	-46835
chr7	28813917	28814329	E068	-45121
chr7	28814341	28814570	E068	-44880
chr7	28818563	28818660	E068	-40790
chr7	28819210	28819260	E068	-40190
chr7	28819281	28819340	E068	-40110
chr7	28819819	28819943	E068	-39507
chr7	28820407	28820575	E068	-38875
chr7	28822098	28822211	E068	-37239
chr7	28822331	28822425	E068	-37025
chr7	28822431	28822543	E068	-36907
chr7	28823481	28823582	E068	-35868
chr7	28823638	28824711	E068	-34739
chr7	28824736	28825235	E068	-34215
chr7	28826809	28827021	E068	-32429
chr7	28827401	28827445	E068	-32005
chr7	28827686	28827825	E068	-31625
chr7	28827877	28827917	E068	-31533
chr7	28831627	28831681	E068	-27769
chr7	28831865	28831905	E068	-27545
chr7	28832087	28832173	E068	-27277
chr7	28832349	28832435	E068	-27015
chr7	28832444	28832583	E068	-26867
chr7	28832707	28832860	E068	-26590
chr7	28832999	28833691	E068	-25759
chr7	28833735	28834002	E068	-25448
chr7	28834282	28834361	E068	-25089
chr7	28834412	28834473	E068	-24977
chr7	28850649	28850741	E068	-8709
chr7	28850822	28850940	E068	-8510
chr7	28851033	28851113	E068	-8337
chr7	28851468	28852151	E068	-7299
chr7	28852261	28852342	E068	-7108
chr7	28852350	28852579	E068	-6871
chr7	28852611	28852845	E068	-6605
chr7	28852852	28853528	E068	-5922
chr7	28853661	28853893	E068	-5557
chr7	28853911	28854024	E068	-5426
chr7	28854308	28854388	E068	-5062
chr7	28855060	28855261	E068	-4189
chr7	28892827	28893145	E068	33377
chr7	28809501	28809565	E069	-49885
chr7	28810437	28810487	E069	-48963
chr7	28819210	28819260	E069	-40190
chr7	28819281	28819340	E069	-40110
chr7	28819819	28819943	E069	-39507
chr7	28820407	28820575	E069	-38875
chr7	28823481	28823582	E069	-35868
chr7	28823638	28824711	E069	-34739
chr7	28824736	28825235	E069	-34215
chr7	28825299	28825651	E069	-33799
chr7	28825778	28825877	E069	-33573
chr7	28826430	28826547	E069	-32903
chr7	28826622	28826711	E069	-32739
chr7	28826809	28827021	E069	-32429
chr7	28827401	28827445	E069	-32005
chr7	28827686	28827825	E069	-31625
chr7	28827877	28827917	E069	-31533
chr7	28828169	28828258	E069	-31192
chr7	28828314	28828436	E069	-31014
chr7	28828604	28828664	E069	-30786
chr7	28829128	28829226	E069	-30224
chr7	28829336	28829431	E069	-30019
chr7	28830195	28830299	E069	-29151
chr7	28832087	28832173	E069	-27277
chr7	28832349	28832435	E069	-27015
chr7	28832444	28832583	E069	-26867
chr7	28832707	28832860	E069	-26590
chr7	28832999	28833691	E069	-25759
chr7	28834930	28835078	E069	-24372
chr7	28839864	28840031	E069	-19419
chr7	28840308	28840352	E069	-19098
chr7	28840369	28840482	E069	-18968
chr7	28850395	28850478	E069	-8972
chr7	28850649	28850741	E069	-8709
chr7	28850822	28850940	E069	-8510
chr7	28851033	28851113	E069	-8337
chr7	28851468	28852151	E069	-7299
chr7	28852261	28852342	E069	-7108
chr7	28852350	28852579	E069	-6871
chr7	28852611	28852845	E069	-6605
chr7	28852852	28853528	E069	-5922
chr7	28853661	28853893	E069	-5557
chr7	28853911	28854024	E069	-5426
chr7	28854308	28854388	E069	-5062
chr7	28892827	28893145	E069	33377
chr7	28894566	28894682	E069	35116
chr7	28819210	28819260	E070	-40190
chr7	28819281	28819340	E070	-40110
chr7	28819819	28819943	E070	-39507
chr7	28823481	28823582	E070	-35868
chr7	28823638	28824711	E070	-34739
chr7	28824736	28825235	E070	-34215
chr7	28832999	28833691	E070	-25759
chr7	28833735	28834002	E070	-25448
chr7	28834282	28834361	E070	-25089
chr7	28834412	28834473	E070	-24977
chr7	28838780	28838874	E070	-20576
chr7	28852261	28852342	E070	-7108
chr7	28852350	28852579	E070	-6871
chr7	28852611	28852845	E070	-6605
chr7	28852852	28853528	E070	-5922
chr7	28859619	28859669	E070	169
chr7	28859673	28859763	E070	223
chr7	28859773	28859920	E070	323
chr7	28860170	28860220	E070	720
chr7	28861643	28861738	E070	2193
chr7	28862028	28862509	E070	2578
chr7	28862638	28862753	E070	3188
chr7	28863269	28863440	E070	3819
chr7	28863633	28863683	E070	4183
chr7	28863707	28863826	E070	4257
chr7	28811074	28811138	E071	-48312
chr7	28811685	28811735	E071	-47715
chr7	28811958	28812018	E071	-47432
chr7	28812087	28812174	E071	-47276
chr7	28813489	28813755	E071	-45695
chr7	28813917	28814329	E071	-45121
chr7	28818563	28818660	E071	-40790
chr7	28819210	28819260	E071	-40190
chr7	28819281	28819340	E071	-40110
chr7	28819819	28819943	E071	-39507
chr7	28820407	28820575	E071	-38875
chr7	28821709	28821783	E071	-37667
chr7	28822098	28822211	E071	-37239
chr7	28822331	28822425	E071	-37025
chr7	28822431	28822543	E071	-36907
chr7	28823481	28823582	E071	-35868
chr7	28823638	28824711	E071	-34739
chr7	28824736	28825235	E071	-34215
chr7	28826622	28826711	E071	-32739
chr7	28826809	28827021	E071	-32429
chr7	28827401	28827445	E071	-32005
chr7	28827686	28827825	E071	-31625
chr7	28827877	28827917	E071	-31533
chr7	28828169	28828258	E071	-31192
chr7	28828314	28828436	E071	-31014
chr7	28828604	28828664	E071	-30786
chr7	28829128	28829226	E071	-30224
chr7	28829336	28829431	E071	-30019
chr7	28832349	28832435	E071	-27015
chr7	28832444	28832583	E071	-26867
chr7	28832707	28832860	E071	-26590
chr7	28832999	28833691	E071	-25759
chr7	28834282	28834361	E071	-25089
chr7	28834412	28834473	E071	-24977
chr7	28834930	28835078	E071	-24372
chr7	28838780	28838874	E071	-20576
chr7	28839384	28839508	E071	-19942
chr7	28839634	28839714	E071	-19736
chr7	28839864	28840031	E071	-19419
chr7	28840308	28840352	E071	-19098
chr7	28840369	28840482	E071	-18968
chr7	28840699	28840828	E071	-18622
chr7	28850395	28850478	E071	-8972
chr7	28850649	28850741	E071	-8709
chr7	28850822	28850940	E071	-8510
chr7	28851033	28851113	E071	-8337
chr7	28851468	28852151	E071	-7299
chr7	28852261	28852342	E071	-7108
chr7	28852350	28852579	E071	-6871
chr7	28852611	28852845	E071	-6605
chr7	28852852	28853528	E071	-5922
chr7	28853661	28853893	E071	-5557
chr7	28853911	28854024	E071	-5426
chr7	28854308	28854388	E071	-5062
chr7	28864709	28864787	E071	5259
chr7	28864988	28865048	E071	5538
chr7	28865141	28865191	E071	5691
chr7	28879973	28880123	E071	20523
chr7	28880219	28880632	E071	20769
chr7	28891003	28891053	E071	31553
chr7	28892827	28893145	E071	33377
chr7	28819819	28819943	E072	-39507
chr7	28820407	28820575	E072	-38875
chr7	28823638	28824711	E072	-34739
chr7	28824736	28825235	E072	-34215
chr7	28826622	28826711	E072	-32739
chr7	28826809	28827021	E072	-32429
chr7	28827401	28827445	E072	-32005
chr7	28827686	28827825	E072	-31625
chr7	28827877	28827917	E072	-31533
chr7	28828169	28828258	E072	-31192
chr7	28830195	28830299	E072	-29151
chr7	28832707	28832860	E072	-26590
chr7	28832999	28833691	E072	-25759
chr7	28834930	28835078	E072	-24372
chr7	28851468	28852151	E072	-7299
chr7	28852261	28852342	E072	-7108
chr7	28852350	28852579	E072	-6871
chr7	28852611	28852845	E072	-6605
chr7	28852852	28853528	E072	-5922
chr7	28855060	28855261	E072	-4189
chr7	28855275	28855865	E072	-3585
chr7	28864988	28865048	E072	5538
chr7	28865141	28865191	E072	5691
chr7	28873464	28873584	E072	14014
chr7	28823481	28823582	E073	-35868
chr7	28823638	28824711	E073	-34739
chr7	28824736	28825235	E073	-34215
chr7	28826622	28826711	E073	-32739
chr7	28826809	28827021	E073	-32429
chr7	28851468	28852151	E073	-7299
chr7	28811074	28811138	E074	-48312
chr7	28811685	28811735	E074	-47715
chr7	28811958	28812018	E074	-47432
chr7	28812087	28812174	E074	-47276
chr7	28813917	28814329	E074	-45121
chr7	28814341	28814570	E074	-44880
chr7	28818563	28818660	E074	-40790
chr7	28819210	28819260	E074	-40190
chr7	28819281	28819340	E074	-40110
chr7	28819819	28819943	E074	-39507
chr7	28820407	28820575	E074	-38875
chr7	28822098	28822211	E074	-37239
chr7	28822331	28822425	E074	-37025
chr7	28822431	28822543	E074	-36907
chr7	28823481	28823582	E074	-35868
chr7	28823638	28824711	E074	-34739
chr7	28824736	28825235	E074	-34215
chr7	28825299	28825651	E074	-33799
chr7	28826622	28826711	E074	-32739
chr7	28826809	28827021	E074	-32429
chr7	28827401	28827445	E074	-32005
chr7	28827686	28827825	E074	-31625
chr7	28827877	28827917	E074	-31533
chr7	28828169	28828258	E074	-31192
chr7	28828314	28828436	E074	-31014
chr7	28828604	28828664	E074	-30786
chr7	28830195	28830299	E074	-29151
chr7	28832349	28832435	E074	-27015
chr7	28832444	28832583	E074	-26867
chr7	28832707	28832860	E074	-26590
chr7	28832999	28833691	E074	-25759
chr7	28833735	28834002	E074	-25448
chr7	28834282	28834361	E074	-25089
chr7	28834412	28834473	E074	-24977
chr7	28839384	28839508	E074	-19942
chr7	28839634	28839714	E074	-19736
chr7	28839864	28840031	E074	-19419
chr7	28840308	28840352	E074	-19098
chr7	28840369	28840482	E074	-18968
chr7	28850395	28850478	E074	-8972
chr7	28850649	28850741	E074	-8709
chr7	28850822	28850940	E074	-8510
chr7	28851033	28851113	E074	-8337
chr7	28851468	28852151	E074	-7299
chr7	28852261	28852342	E074	-7108
chr7	28852350	28852579	E074	-6871
chr7	28852611	28852845	E074	-6605
chr7	28852852	28853528	E074	-5922
chr7	28855060	28855261	E074	-4189
chr7	28855275	28855865	E074	-3585
chr7	28864988	28865048	E074	5538
chr7	28865141	28865191	E074	5691
chr7	28880700	28880785	E074	21250
chr7	28881517	28881568	E074	22067
chr7	28881682	28881722	E074	22232
chr7	28881893	28881943	E074	22443
chr7	28882089	28882139	E074	22639
chr7	28882194	28882284	E074	22744
chr7	28882438	28882741	E074	22988
chr7	28819819	28819943	E081	-39507
chr7	28823638	28824711	E081	-34739
chr7	28851468	28852151	E081	-7299
chr7	28852261	28852342	E081	-7108
chr7	28852350	28852579	E081	-6871
chr7	28852611	28852845	E081	-6605
chr7	28852852	28853528	E081	-5922
chr7	28813917	28814329	E082	-45121
chr7	28814341	28814570	E082	-44880
chr7	28823638	28824711	E082	-34739
chr7	28851468	28852151	E082	-7299
chr7	28852261	28852342	E082	-7108
chr7	28852350	28852579	E082	-6871
chr7	28852611	28852845	E082	-6605
chr7	28852852	28853528	E082	-5922
chr7	28853661	28853893	E082	-5557

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	28893156	28893290	E067	33706
chr7	28893301	28894540	E067	33851
chr7	28893301	28894540	E068	33851
chr7	28893156	28893290	E069	33706
chr7	28893301	28894540	E069	33851
chr7	28893301	28894540	E070	33851
chr7	28893156	28893290	E071	33706
chr7	28893301	28894540	E071	33851
chr7	28893156	28893290	E072	33706
chr7	28893301	28894540	E072	33851
chr7	28893156	28893290	E073	33706
chr7	28893301	28894540	E073	33851
chr7	28893156	28893290	E074	33706
chr7	28893301	28894540	E074	33851
chr7	28893156	28893290	E082	33706
chr7	28893301	28894540	E082	33851