rs3786704

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

STRN4 : Intron Variant
LOC107987269 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0071 (2146/29908,GnomAD)
T=0066 (1928/29118,TOPMED)
T=0070 (353/5008,1000G)
T=0088 (338/3854,ALSPAC)
T=0079 (293/3708,TWINSUK)

Position: chr19:46721333 (GRCh38.p7) (19q13.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 268 Enhancers around

Promoter: 50 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.46721333C>T
GRCh37.p13 chr 19	NC_000019.9:g.47224590C>T

Gene: STRN4, striatin 4(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
STRN4 transcript variant 2	NM_001039877.1:c.	N/A	Intron Variant
STRN4 transcript variant 1	NM_013403.2:c.	N/A	Intron Variant
STRN4 transcript variant X1	XM_006723171.2:c.	N/A	Intron Variant
STRN4 transcript variant X2	XM_006723172.2:c.	N/A	Intron Variant
STRN4 transcript variant X5	XM_006723174.2:c.	N/A	Intron Variant
STRN4 transcript variant X8	XM_011526878.1:c.	N/A	Intron Variant
STRN4 transcript variant X10	XM_011526879.1:c.	N/A	Intron Variant
STRN4 transcript variant X3	XM_017026716.1:c.	N/A	Intron Variant
STRN4 transcript variant X4	XM_017026717.1:c.	N/A	Intron Variant
STRN4 transcript variant X7	XM_017026718.1:c.	N/A	Intron Variant
STRN4 transcript variant X9	XM_017026719.1:c.	N/A	Intron Variant

Gene: LOC107987269, uncharacterized LOC107987269(minus strand): 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107987269 transcript	XM_017027568.1:c.	N/A	Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.947	T=0.053
1000Genomes	American	Sub	694	C=0.920	T=0.080
1000Genomes	East Asian	Sub	1008	C=0.901	T=0.099
1000Genomes	Europe	Sub	1006	C=0.914	T=0.086
1000Genomes	Global	Study-wide	5008	C=0.930	T=0.070
1000Genomes	South Asian	Sub	978	C=0.960	T=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.912	T=0.088
The Genome Aggregation Database	African	Sub	8702	C=0.950	T=0.050
The Genome Aggregation Database	American	Sub	836	C=0.920	T=0.080
The Genome Aggregation Database	East Asian	Sub	1620	C=0.920	T=0.080
The Genome Aggregation Database	Europe	Sub	18448	C=0.919	T=0.081
The Genome Aggregation Database	Global	Study-wide	29908	C=0.928	T=0.071
The Genome Aggregation Database	Other	Sub	302	C=0.940	T=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.933	T=0.066
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.921	T=0.079

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs3786704	0.00072	alcohol dependence	20201924

eQTL of rs3786704 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 rs3786704 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 )
chr19	47200095	47200214	E067	-24376
chr19	47229761	47229896	E067	5171
chr19	47229951	47230030	E067	5361
chr19	47230139	47230566	E067	5549
chr19	47230617	47230825	E067	6027
chr19	47231083	47231432	E067	6493
chr19	47231450	47232720	E067	6860
chr19	47232794	47232885	E067	8204
chr19	47235255	47235468	E067	10665
chr19	47235486	47235571	E067	10896
chr19	47235602	47235694	E067	11012
chr19	47235834	47235897	E067	11244
chr19	47236012	47236062	E067	11422
chr19	47236178	47236268	E067	11588
chr19	47239736	47240210	E067	15146
chr19	47240239	47240383	E067	15649
chr19	47240453	47240955	E067	15863
chr19	47241071	47241212	E067	16481
chr19	47241318	47241415	E067	16728
chr19	47241556	47241627	E067	16966
chr19	47241778	47241832	E067	17188
chr19	47241873	47241977	E067	17283
chr19	47243997	47244061	E067	19407
chr19	47244083	47244183	E067	19493
chr19	47244263	47244317	E067	19673
chr19	47244363	47244448	E067	19773
chr19	47244736	47244790	E067	20146
chr19	47244888	47245298	E067	20298
chr19	47245334	47245621	E067	20744
chr19	47246179	47246630	E067	21589
chr19	47246656	47246764	E067	22066
chr19	47250687	47250773	E067	26097
chr19	47229951	47230030	E068	5361
chr19	47230139	47230566	E068	5549
chr19	47230617	47230825	E068	6027
chr19	47231083	47231432	E068	6493
chr19	47231450	47232720	E068	6860
chr19	47233995	47235246	E068	9405
chr19	47235255	47235468	E068	10665
chr19	47235486	47235571	E068	10896
chr19	47235602	47235694	E068	11012
chr19	47235834	47235897	E068	11244
chr19	47236012	47236062	E068	11422
chr19	47236178	47236268	E068	11588
chr19	47236521	47237152	E068	11931
chr19	47239736	47240210	E068	15146
chr19	47240239	47240383	E068	15649
chr19	47240453	47240955	E068	15863
chr19	47241071	47241212	E068	16481
chr19	47241318	47241415	E068	16728
chr19	47241556	47241627	E068	16966
chr19	47241647	47241771	E068	17057
chr19	47241778	47241832	E068	17188
chr19	47241873	47241977	E068	17283
chr19	47242250	47242411	E068	17660
chr19	47242452	47243143	E068	17862
chr19	47243179	47243261	E068	18589
chr19	47243688	47243955	E068	19098
chr19	47243997	47244061	E068	19407
chr19	47244083	47244183	E068	19493
chr19	47244263	47244317	E068	19673
chr19	47244363	47244448	E068	19773
chr19	47244736	47244790	E068	20146
chr19	47244888	47245298	E068	20298
chr19	47245334	47245621	E068	20744
chr19	47245626	47245689	E068	21036
chr19	47246017	47246082	E068	21427
chr19	47246100	47246154	E068	21510
chr19	47246179	47246630	E068	21589
chr19	47246656	47246764	E068	22066
chr19	47247374	47247514	E068	22784
chr19	47247574	47247639	E068	22984
chr19	47250687	47250773	E068	26097
chr19	47262876	47262937	E068	38286
chr19	47262974	47263655	E068	38384
chr19	47229761	47229896	E069	5171
chr19	47229951	47230030	E069	5361
chr19	47230139	47230566	E069	5549
chr19	47230617	47230825	E069	6027
chr19	47231083	47231432	E069	6493
chr19	47231450	47232720	E069	6860
chr19	47235255	47235468	E069	10665
chr19	47235486	47235571	E069	10896
chr19	47235602	47235694	E069	11012
chr19	47235834	47235897	E069	11244
chr19	47239736	47240210	E069	15146
chr19	47240239	47240383	E069	15649
chr19	47240453	47240955	E069	15863
chr19	47241071	47241212	E069	16481
chr19	47241318	47241415	E069	16728
chr19	47241556	47241627	E069	16966
chr19	47241647	47241771	E069	17057
chr19	47241778	47241832	E069	17188
chr19	47241873	47241977	E069	17283
chr19	47242250	47242411	E069	17660
chr19	47242452	47243143	E069	17862
chr19	47243179	47243261	E069	18589
chr19	47243688	47243955	E069	19098
chr19	47243997	47244061	E069	19407
chr19	47244083	47244183	E069	19493
chr19	47244263	47244317	E069	19673
chr19	47244363	47244448	E069	19773
chr19	47244736	47244790	E069	20146
chr19	47244888	47245298	E069	20298
chr19	47245334	47245621	E069	20744
chr19	47246656	47246764	E069	22066
chr19	47247374	47247514	E069	22784
chr19	47247574	47247639	E069	22984
chr19	47215980	47216057	E070	-8533
chr19	47247374	47247514	E070	22784
chr19	47250687	47250773	E070	26097
chr19	47250933	47251419	E070	26343
chr19	47256852	47257471	E070	32262
chr19	47262876	47262937	E070	38286
chr19	47262974	47263655	E070	38384
chr19	47229761	47229896	E071	5171
chr19	47229951	47230030	E071	5361
chr19	47230139	47230566	E071	5549
chr19	47230617	47230825	E071	6027
chr19	47231083	47231432	E071	6493
chr19	47231450	47232720	E071	6860
chr19	47232794	47232885	E071	8204
chr19	47232919	47233045	E071	8329
chr19	47233115	47233298	E071	8525
chr19	47233339	47233598	E071	8749
chr19	47233727	47233991	E071	9137
chr19	47233995	47235246	E071	9405
chr19	47235255	47235468	E071	10665
chr19	47235486	47235571	E071	10896
chr19	47235602	47235694	E071	11012
chr19	47235834	47235897	E071	11244
chr19	47236012	47236062	E071	11422
chr19	47236178	47236268	E071	11588
chr19	47236521	47237152	E071	11931
chr19	47237181	47237588	E071	12591
chr19	47239736	47240210	E071	15146
chr19	47240239	47240383	E071	15649
chr19	47242250	47242411	E071	17660
chr19	47242452	47243143	E071	17862
chr19	47243179	47243261	E071	18589
chr19	47243997	47244061	E071	19407
chr19	47244083	47244183	E071	19493
chr19	47244263	47244317	E071	19673
chr19	47244363	47244448	E071	19773
chr19	47244736	47244790	E071	20146
chr19	47244888	47245298	E071	20298
chr19	47245334	47245621	E071	20744
chr19	47245626	47245689	E071	21036
chr19	47246017	47246082	E071	21427
chr19	47246100	47246154	E071	21510
chr19	47246179	47246630	E071	21589
chr19	47246656	47246764	E071	22066
chr19	47247374	47247514	E071	22784
chr19	47247574	47247639	E071	22984
chr19	47250687	47250773	E071	26097
chr19	47256852	47257471	E071	32262
chr19	47262974	47263655	E071	38384
chr19	47264722	47265050	E071	40132
chr19	47179801	47179852	E072	-44738
chr19	47179922	47179962	E072	-44628
chr19	47229761	47229896	E072	5171
chr19	47229951	47230030	E072	5361
chr19	47230139	47230566	E072	5549
chr19	47230617	47230825	E072	6027
chr19	47231083	47231432	E072	6493
chr19	47231450	47232720	E072	6860
chr19	47232794	47232885	E072	8204
chr19	47232919	47233045	E072	8329
chr19	47233115	47233298	E072	8525
chr19	47233339	47233598	E072	8749
chr19	47233727	47233991	E072	9137
chr19	47233995	47235246	E072	9405
chr19	47235255	47235468	E072	10665
chr19	47235486	47235571	E072	10896
chr19	47235602	47235694	E072	11012
chr19	47235834	47235897	E072	11244
chr19	47236012	47236062	E072	11422
chr19	47236178	47236268	E072	11588
chr19	47239736	47240210	E072	15146
chr19	47240239	47240383	E072	15649
chr19	47242250	47242411	E072	17660
chr19	47242452	47243143	E072	17862
chr19	47243179	47243261	E072	18589
chr19	47243688	47243955	E072	19098
chr19	47243997	47244061	E072	19407
chr19	47244083	47244183	E072	19493
chr19	47244263	47244317	E072	19673
chr19	47244363	47244448	E072	19773
chr19	47244888	47245298	E072	20298
chr19	47245334	47245621	E072	20744
chr19	47246017	47246082	E072	21427
chr19	47246100	47246154	E072	21510
chr19	47246179	47246630	E072	21589
chr19	47246656	47246764	E072	22066
chr19	47229761	47229896	E073	5171
chr19	47229951	47230030	E073	5361
chr19	47230139	47230566	E073	5549
chr19	47230617	47230825	E073	6027
chr19	47231083	47231432	E073	6493
chr19	47231450	47232720	E073	6860
chr19	47232794	47232885	E073	8204
chr19	47232919	47233045	E073	8329
chr19	47233115	47233298	E073	8525
chr19	47233727	47233991	E073	9137
chr19	47233995	47235246	E073	9405
chr19	47235255	47235468	E073	10665
chr19	47235486	47235571	E073	10896
chr19	47235602	47235694	E073	11012
chr19	47235834	47235897	E073	11244
chr19	47236012	47236062	E073	11422
chr19	47236178	47236268	E073	11588
chr19	47236521	47237152	E073	11931
chr19	47239736	47240210	E073	15146
chr19	47240239	47240383	E073	15649
chr19	47240453	47240955	E073	15863
chr19	47241071	47241212	E073	16481
chr19	47241318	47241415	E073	16728
chr19	47241556	47241627	E073	16966
chr19	47241647	47241771	E073	17057
chr19	47241778	47241832	E073	17188
chr19	47241873	47241977	E073	17283
chr19	47242250	47242411	E073	17660
chr19	47242452	47243143	E073	17862
chr19	47243179	47243261	E073	18589
chr19	47243688	47243955	E073	19098
chr19	47243997	47244061	E073	19407
chr19	47244083	47244183	E073	19493
chr19	47244263	47244317	E073	19673
chr19	47244363	47244448	E073	19773
chr19	47244736	47244790	E073	20146
chr19	47244888	47245298	E073	20298
chr19	47245334	47245621	E073	20744
chr19	47245626	47245689	E073	21036
chr19	47246017	47246082	E073	21427
chr19	47246100	47246154	E073	21510
chr19	47246179	47246630	E073	21589
chr19	47246656	47246764	E073	22066
chr19	47261167	47261379	E073	36577
chr19	47229951	47230030	E074	5361
chr19	47230139	47230566	E074	5549
chr19	47231450	47232720	E074	6860
chr19	47233727	47233991	E074	9137
chr19	47233995	47235246	E074	9405
chr19	47235255	47235468	E074	10665
chr19	47235486	47235571	E074	10896
chr19	47235602	47235694	E074	11012
chr19	47235834	47235897	E074	11244
chr19	47239736	47240210	E074	15146
chr19	47240239	47240383	E074	15649
chr19	47246656	47246764	E074	22066
chr19	47247374	47247514	E074	22784
chr19	47247574	47247639	E074	22984
chr19	47200095	47200214	E081	-24376
chr19	47246179	47246630	E081	21589
chr19	47246656	47246764	E081	22066
chr19	47247374	47247514	E081	22784
chr19	47247574	47247639	E081	22984
chr19	47250687	47250773	E081	26097
chr19	47250933	47251419	E081	26343
chr19	47256852	47257471	E081	32262
chr19	47244263	47244317	E082	19673
chr19	47244363	47244448	E082	19773
chr19	47244736	47244790	E082	20146
chr19	47244888	47245298	E082	20298
chr19	47246656	47246764	E082	22066
chr19	47247374	47247514	E082	22784
chr19	47250933	47251419	E082	26343
chr19	47256852	47257471	E082	32262

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	47200277	47201280	E067	-23310
chr19	47216685	47218339	E067	-6251
chr19	47248372	47248713	E067	23782
chr19	47248719	47249596	E067	24129
chr19	47249603	47250628	E067	25013
chr19	47216685	47218339	E068	-6251
chr19	47218714	47222446	E068	-2144
chr19	47248372	47248713	E068	23782
chr19	47248719	47249596	E068	24129
chr19	47249603	47250628	E068	25013
chr19	47200277	47201280	E069	-23310
chr19	47216685	47218339	E069	-6251
chr19	47218714	47222446	E069	-2144
chr19	47248372	47248713	E069	23782
chr19	47248719	47249596	E069	24129
chr19	47249603	47250628	E069	25013
chr19	47216685	47218339	E070	-6251
chr19	47218714	47222446	E070	-2144
chr19	47248372	47248713	E070	23782
chr19	47248719	47249596	E070	24129
chr19	47249603	47250628	E070	25013
chr19	47200277	47201280	E071	-23310
chr19	47216685	47218339	E071	-6251
chr19	47248372	47248713	E071	23782
chr19	47248719	47249596	E071	24129
chr19	47249603	47250628	E071	25013
chr19	47216685	47218339	E072	-6251
chr19	47218714	47222446	E072	-2144
chr19	47248372	47248713	E072	23782
chr19	47248719	47249596	E072	24129
chr19	47249603	47250628	E072	25013
chr19	47200277	47201280	E073	-23310
chr19	47216685	47218339	E073	-6251
chr19	47218714	47222446	E073	-2144
chr19	47248372	47248713	E073	23782
chr19	47248719	47249596	E073	24129
chr19	47249603	47250628	E073	25013
chr19	47200277	47201280	E074	-23310
chr19	47216685	47218339	E074	-6251
chr19	47218714	47222446	E074	-2144
chr19	47248372	47248713	E074	23782
chr19	47248719	47249596	E074	24129
chr19	47248372	47248713	E081	23782
chr19	47248719	47249596	E081	24129
chr19	47200277	47201280	E082	-23310
chr19	47216685	47218339	E082	-6251
chr19	47218714	47222446	E082	-2144
chr19	47248372	47248713	E082	23782
chr19	47248719	47249596	E082	24129
chr19	47249603	47250628	E082	25013