rs75913810

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CPNE5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0036 (1094/29984,GnomAD)
A=0022 (647/29118,TOPMED)
A=0086 (431/5008,1000G)
A=0019 (72/3854,ALSPAC)
A=0014 (51/3708,TWINSUK)

Position: chr6:36800584 (GRCh38.p7) (6p21.2)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 298 Enhancers around

Promoter: 50 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.36800584G>A
GRCh37.p13 chr 6	NC_000006.11:g.36768360G>A

Gene: CPNE5, copine 5(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CPNE5 transcript variant 2	NM_001314017.1:c.	N/A	Intron Variant
CPNE5 transcript variant 1	NM_020939.1:c.	N/A	Intron Variant
CPNE5 transcript variant 3	NM_001314018.1:c.	N/A	Genic Upstream Transcript Variant
CPNE5 transcript variant 4	NM_001314019.1:c.	N/A	Genic Upstream Transcript Variant
CPNE5 transcript variant 5	NM_001314020.1:c.	N/A	Genic Upstream Transcript Variant
CPNE5 transcript variant X5	XM_005249247.2:c.	N/A	Intron Variant
CPNE5 transcript variant X1	XM_011514768.1:c.	N/A	Intron Variant
CPNE5 transcript variant X2	XM_011514769.1:c.	N/A	Intron Variant
CPNE5 transcript variant X3	XM_011514770.1:c.	N/A	Intron Variant
CPNE5 transcript variant X4	XM_011514771.2:c.	N/A	Intron Variant
CPNE5 transcript variant X6	XM_011514772.1:c.	N/A	Intron Variant
CPNE5 transcript variant X8	XM_017011139.1:c.	N/A	Intron Variant
CPNE5 transcript variant X7	XM_011514773.2:c.	N/A	Genic Upstream Transcript Variant
CPNE5 transcript variant X11	XM_011514775.2:c.	N/A	Genic Upstream Transcript Variant
CPNE5 transcript variant X10	XR_001743541.1:n.	N/A	Intron Variant
CPNE5 transcript variant X12	XR_001743542.1:n.	N/A	Intron Variant
CPNE5 transcript variant X9	XR_926291.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.974	A=0.026
1000Genomes	American	Sub	694	G=0.950	A=0.050
1000Genomes	East Asian	Sub	1008	G=0.768	A=0.232
1000Genomes	Europe	Sub	1006	G=0.971	A=0.029
1000Genomes	Global	Study-wide	5008	G=0.914	A=0.086
1000Genomes	South Asian	Sub	978	G=0.900	A=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.981	A=0.019
The Genome Aggregation Database	African	Sub	8730	G=0.978	A=0.022
The Genome Aggregation Database	American	Sub	838	G=0.910	A=0.090
The Genome Aggregation Database	East Asian	Sub	1620	G=0.777	A=0.223
The Genome Aggregation Database	Europe	Sub	18494	G=0.975	A=0.024
The Genome Aggregation Database	Global	Study-wide	29984	G=0.963	A=0.036
The Genome Aggregation Database	Other	Sub	302	G=0.990	A=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.977	A=0.022
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.986	A=0.014

PMID	Title	Author	Journal
29460428	Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.	Gelernter J	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs75913810	9E-07	alcohol consumption measurement	29460428

eQTL of rs75913810 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 rs75913810 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 )
chr6	36726358	36727250	E067	-41110
chr6	36727427	36727533	E067	-40827
chr6	36727568	36727780	E067	-40580
chr6	36727800	36727854	E067	-40506
chr6	36728456	36728527	E067	-39833
chr6	36728591	36728676	E067	-39684
chr6	36728709	36728789	E067	-39571
chr6	36728859	36728909	E067	-39451
chr6	36729056	36729170	E067	-39190
chr6	36733336	36734572	E067	-33788
chr6	36736322	36736517	E067	-31843
chr6	36736598	36738077	E067	-30283
chr6	36744968	36745024	E067	-23336
chr6	36745038	36745283	E067	-23077
chr6	36745373	36745452	E067	-22908
chr6	36745660	36745747	E067	-22613
chr6	36745751	36745858	E067	-22502
chr6	36756133	36756249	E067	-12111
chr6	36756437	36756973	E067	-11387
chr6	36757123	36757179	E067	-11181
chr6	36759295	36759599	E067	-8761
chr6	36762224	36762535	E067	-5825
chr6	36762545	36762678	E067	-5682
chr6	36792854	36793020	E067	24494
chr6	36793864	36794399	E067	25504
chr6	36794514	36794564	E067	26154
chr6	36794618	36794668	E067	26258
chr6	36794761	36794811	E067	26401
chr6	36794865	36794967	E067	26505
chr6	36795030	36796031	E067	26670
chr6	36797738	36798434	E067	29378
chr6	36798477	36798575	E067	30117
chr6	36802461	36802572	E067	34101
chr6	36720297	36720711	E068	-47649
chr6	36726358	36727250	E068	-41110
chr6	36727427	36727533	E068	-40827
chr6	36727568	36727780	E068	-40580
chr6	36727800	36727854	E068	-40506
chr6	36728456	36728527	E068	-39833
chr6	36728591	36728676	E068	-39684
chr6	36728709	36728789	E068	-39571
chr6	36728859	36728909	E068	-39451
chr6	36729056	36729170	E068	-39190
chr6	36733336	36734572	E068	-33788
chr6	36736322	36736517	E068	-31843
chr6	36736598	36738077	E068	-30283
chr6	36739889	36739986	E068	-28374
chr6	36740147	36740229	E068	-28131
chr6	36740245	36740479	E068	-27881
chr6	36744509	36744757	E068	-23603
chr6	36744968	36745024	E068	-23336
chr6	36745038	36745283	E068	-23077
chr6	36745373	36745452	E068	-22908
chr6	36745660	36745747	E068	-22613
chr6	36745751	36745858	E068	-22502
chr6	36756133	36756249	E068	-12111
chr6	36756437	36756973	E068	-11387
chr6	36757123	36757179	E068	-11181
chr6	36759295	36759599	E068	-8761
chr6	36761243	36762195	E068	-6165
chr6	36762224	36762535	E068	-5825
chr6	36762545	36762678	E068	-5682
chr6	36772707	36772824	E068	4347
chr6	36772890	36773126	E068	4530
chr6	36778618	36778668	E068	10258
chr6	36778701	36778905	E068	10341
chr6	36790352	36790434	E068	21992
chr6	36793755	36793822	E068	25395
chr6	36793864	36794399	E068	25504
chr6	36794514	36794564	E068	26154
chr6	36794618	36794668	E068	26258
chr6	36794761	36794811	E068	26401
chr6	36794865	36794967	E068	26505
chr6	36795030	36796031	E068	26670
chr6	36797738	36798434	E068	29378
chr6	36798477	36798575	E068	30117
chr6	36817219	36817430	E068	48859
chr6	36817439	36817519	E068	49079
chr6	36817733	36817994	E068	49373
chr6	36818058	36818241	E068	49698
chr6	36726358	36727250	E069	-41110
chr6	36727427	36727533	E069	-40827
chr6	36728456	36728527	E069	-39833
chr6	36728591	36728676	E069	-39684
chr6	36728709	36728789	E069	-39571
chr6	36728859	36728909	E069	-39451
chr6	36729056	36729170	E069	-39190
chr6	36733336	36734572	E069	-33788
chr6	36736322	36736517	E069	-31843
chr6	36736598	36738077	E069	-30283
chr6	36739889	36739986	E069	-28374
chr6	36740147	36740229	E069	-28131
chr6	36745660	36745747	E069	-22613
chr6	36745751	36745858	E069	-22502
chr6	36756133	36756249	E069	-12111
chr6	36756437	36756973	E069	-11387
chr6	36757123	36757179	E069	-11181
chr6	36757255	36757548	E069	-10812
chr6	36757730	36757774	E069	-10586
chr6	36761243	36762195	E069	-6165
chr6	36762224	36762535	E069	-5825
chr6	36762545	36762678	E069	-5682
chr6	36794514	36794564	E069	26154
chr6	36794618	36794668	E069	26258
chr6	36794761	36794811	E069	26401
chr6	36794865	36794967	E069	26505
chr6	36795030	36796031	E069	26670
chr6	36812018	36812820	E069	43658
chr6	36733336	36734572	E070	-33788
chr6	36736598	36738077	E070	-30283
chr6	36744968	36745024	E070	-23336
chr6	36745038	36745283	E070	-23077
chr6	36745373	36745452	E070	-22908
chr6	36745660	36745747	E070	-22613
chr6	36745751	36745858	E070	-22502
chr6	36756133	36756249	E070	-12111
chr6	36759295	36759599	E070	-8761
chr6	36760063	36760117	E070	-8243
chr6	36760343	36760392	E070	-7968
chr6	36760624	36760664	E070	-7696
chr6	36761243	36762195	E070	-6165
chr6	36762224	36762535	E070	-5825
chr6	36762545	36762678	E070	-5682
chr6	36772707	36772824	E070	4347
chr6	36772890	36773126	E070	4530
chr6	36793864	36794399	E070	25504
chr6	36794514	36794564	E070	26154
chr6	36794618	36794668	E070	26258
chr6	36794761	36794811	E070	26401
chr6	36794865	36794967	E070	26505
chr6	36795030	36796031	E070	26670
chr6	36802461	36802572	E070	34101
chr6	36802586	36803075	E070	34226
chr6	36812018	36812820	E070	43658
chr6	36816245	36817216	E070	47885
chr6	36726358	36727250	E071	-41110
chr6	36727427	36727533	E071	-40827
chr6	36727568	36727780	E071	-40580
chr6	36727800	36727854	E071	-40506
chr6	36728456	36728527	E071	-39833
chr6	36728591	36728676	E071	-39684
chr6	36728709	36728789	E071	-39571
chr6	36728859	36728909	E071	-39451
chr6	36729056	36729170	E071	-39190
chr6	36733336	36734572	E071	-33788
chr6	36736598	36738077	E071	-30283
chr6	36740147	36740229	E071	-28131
chr6	36740245	36740479	E071	-27881
chr6	36756133	36756249	E071	-12111
chr6	36756437	36756973	E071	-11387
chr6	36757123	36757179	E071	-11181
chr6	36757255	36757548	E071	-10812
chr6	36761243	36762195	E071	-6165
chr6	36762224	36762535	E071	-5825
chr6	36762545	36762678	E071	-5682
chr6	36794514	36794564	E071	26154
chr6	36794618	36794668	E071	26258
chr6	36794761	36794811	E071	26401
chr6	36794865	36794967	E071	26505
chr6	36795030	36796031	E071	26670
chr6	36797738	36798434	E071	29378
chr6	36798477	36798575	E071	30117
chr6	36802461	36802572	E071	34101
chr6	36802586	36803075	E071	34226
chr6	36812018	36812820	E071	43658
chr6	36813114	36813244	E071	44754
chr6	36726358	36727250	E072	-41110
chr6	36727427	36727533	E072	-40827
chr6	36727568	36727780	E072	-40580
chr6	36727800	36727854	E072	-40506
chr6	36728456	36728527	E072	-39833
chr6	36728591	36728676	E072	-39684
chr6	36728709	36728789	E072	-39571
chr6	36728859	36728909	E072	-39451
chr6	36729056	36729170	E072	-39190
chr6	36733336	36734572	E072	-33788
chr6	36736322	36736517	E072	-31843
chr6	36736598	36738077	E072	-30283
chr6	36756133	36756249	E072	-12111
chr6	36756437	36756973	E072	-11387
chr6	36757123	36757179	E072	-11181
chr6	36757255	36757548	E072	-10812
chr6	36761243	36762195	E072	-6165
chr6	36762224	36762535	E072	-5825
chr6	36762545	36762678	E072	-5682
chr6	36789226	36789851	E072	20866
chr6	36790352	36790434	E072	21992
chr6	36790488	36790582	E072	22128
chr6	36794514	36794564	E072	26154
chr6	36794618	36794668	E072	26258
chr6	36794761	36794811	E072	26401
chr6	36794865	36794967	E072	26505
chr6	36797738	36798434	E072	29378
chr6	36798477	36798575	E072	30117
chr6	36802461	36802572	E072	34101
chr6	36802586	36803075	E072	34226
chr6	36728456	36728527	E073	-39833
chr6	36728591	36728676	E073	-39684
chr6	36728709	36728789	E073	-39571
chr6	36728859	36728909	E073	-39451
chr6	36729056	36729170	E073	-39190
chr6	36733336	36734572	E073	-33788
chr6	36736322	36736517	E073	-31843
chr6	36736598	36738077	E073	-30283
chr6	36740147	36740229	E073	-28131
chr6	36740245	36740479	E073	-27881
chr6	36745751	36745858	E073	-22502
chr6	36756437	36756973	E073	-11387
chr6	36757123	36757179	E073	-11181
chr6	36757255	36757548	E073	-10812
chr6	36760063	36760117	E073	-8243
chr6	36760343	36760392	E073	-7968
chr6	36760624	36760664	E073	-7696
chr6	36761243	36762195	E073	-6165
chr6	36762224	36762535	E073	-5825
chr6	36762545	36762678	E073	-5682
chr6	36794514	36794564	E073	26154
chr6	36794618	36794668	E073	26258
chr6	36794761	36794811	E073	26401
chr6	36794865	36794967	E073	26505
chr6	36795030	36796031	E073	26670
chr6	36797738	36798434	E073	29378
chr6	36798477	36798575	E073	30117
chr6	36726358	36727250	E074	-41110
chr6	36727427	36727533	E074	-40827
chr6	36727568	36727780	E074	-40580
chr6	36727800	36727854	E074	-40506
chr6	36728456	36728527	E074	-39833
chr6	36728591	36728676	E074	-39684
chr6	36728709	36728789	E074	-39571
chr6	36728859	36728909	E074	-39451
chr6	36729056	36729170	E074	-39190
chr6	36733336	36734572	E074	-33788
chr6	36739889	36739986	E074	-28374
chr6	36740147	36740229	E074	-28131
chr6	36740245	36740479	E074	-27881
chr6	36757123	36757179	E074	-11181
chr6	36762224	36762535	E074	-5825
chr6	36762545	36762678	E074	-5682
chr6	36794514	36794564	E074	26154
chr6	36794618	36794668	E074	26258
chr6	36794761	36794811	E074	26401
chr6	36794865	36794967	E074	26505
chr6	36797738	36798434	E074	29378
chr6	36802586	36803075	E074	34226
chr6	36813114	36813244	E074	44754
chr6	36732508	36732558	E081	-35802
chr6	36733336	36734572	E081	-33788
chr6	36742100	36742151	E081	-26209
chr6	36742191	36742637	E081	-25723
chr6	36742746	36742804	E081	-25556
chr6	36742934	36743016	E081	-25344
chr6	36744968	36745024	E081	-23336
chr6	36745038	36745283	E081	-23077
chr6	36745373	36745452	E081	-22908
chr6	36745660	36745747	E081	-22613
chr6	36745751	36745858	E081	-22502
chr6	36756437	36756973	E081	-11387
chr6	36757123	36757179	E081	-11181
chr6	36757255	36757548	E081	-10812
chr6	36757730	36757774	E081	-10586
chr6	36759295	36759599	E081	-8761
chr6	36760063	36760117	E081	-8243
chr6	36760343	36760392	E081	-7968
chr6	36760624	36760664	E081	-7696
chr6	36761243	36762195	E081	-6165
chr6	36762224	36762535	E081	-5825
chr6	36773766	36773987	E081	5406
chr6	36792854	36793020	E081	24494
chr6	36793385	36793450	E081	25025
chr6	36793498	36793558	E081	25138
chr6	36793755	36793822	E081	25395
chr6	36793864	36794399	E081	25504
chr6	36794514	36794564	E081	26154
chr6	36794618	36794668	E081	26258
chr6	36794761	36794811	E081	26401
chr6	36794865	36794967	E081	26505
chr6	36795030	36796031	E081	26670
chr6	36797738	36798434	E081	29378
chr6	36798477	36798575	E081	30117
chr6	36802461	36802572	E081	34101
chr6	36802586	36803075	E081	34226
chr6	36816245	36817216	E081	47885
chr6	36733336	36734572	E082	-33788
chr6	36745373	36745452	E082	-22908
chr6	36745660	36745747	E082	-22613
chr6	36745751	36745858	E082	-22502
chr6	36761243	36762195	E082	-6165
chr6	36772707	36772824	E082	4347
chr6	36772890	36773126	E082	4530
chr6	36778618	36778668	E082	10258
chr6	36778701	36778905	E082	10341
chr6	36779354	36779408	E082	10994
chr6	36797738	36798434	E082	29378
chr6	36798477	36798575	E082	30117
chr6	36802152	36802202	E082	33792
chr6	36802461	36802572	E082	34101
chr6	36802586	36803075	E082	34226

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr6	36806041	36806091	E067	37681
chr6	36806381	36806535	E067	38021
chr6	36806644	36806769	E067	38284
chr6	36806853	36806968	E067	38493
chr6	36807079	36807422	E067	38719
chr6	36807456	36808150	E067	39096
chr6	36808180	36809304	E067	39820
chr6	36806041	36806091	E068	37681
chr6	36806381	36806535	E068	38021
chr6	36806644	36806769	E068	38284
chr6	36806853	36806968	E068	38493
chr6	36807079	36807422	E068	38719
chr6	36807456	36808150	E068	39096
chr6	36808180	36809304	E068	39820
chr6	36806381	36806535	E069	38021
chr6	36806644	36806769	E069	38284
chr6	36807079	36807422	E069	38719
chr6	36807456	36808150	E069	39096
chr6	36808180	36809304	E069	39820
chr6	36806644	36806769	E070	38284
chr6	36806853	36806968	E070	38493
chr6	36807079	36807422	E070	38719
chr6	36807456	36808150	E070	39096
chr6	36806381	36806535	E071	38021
chr6	36806644	36806769	E071	38284
chr6	36807456	36808150	E071	39096
chr6	36808180	36809304	E071	39820
chr6	36806041	36806091	E072	37681
chr6	36806381	36806535	E072	38021
chr6	36806644	36806769	E072	38284
chr6	36806853	36806968	E072	38493
chr6	36807079	36807422	E072	38719
chr6	36807456	36808150	E072	39096
chr6	36806381	36806535	E073	38021
chr6	36806644	36806769	E073	38284
chr6	36806853	36806968	E073	38493
chr6	36807079	36807422	E073	38719
chr6	36807456	36808150	E073	39096
chr6	36808180	36809304	E073	39820
chr6	36806644	36806769	E074	38284
chr6	36806853	36806968	E074	38493
chr6	36807079	36807422	E074	38719
chr6	36807456	36808150	E074	39096
chr6	36806644	36806769	E081	38284
chr6	36806041	36806091	E082	37681
chr6	36806381	36806535	E082	38021
chr6	36806644	36806769	E082	38284
chr6	36806853	36806968	E082	38493
chr6	36807456	36808150	E082	39096
chr6	36808180	36809304	E082	39820