rs7536114

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

CSMD2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0303 (9063/29844,GnomAD)
G=0347 (10107/29118,TOPMED)
G=0291 (1456/5008,1000G)
G=0242 (934/3854,ALSPAC)
G=0211 (784/3708,TWINSUK)

Position: chr1:33913774 (GRCh38.p7) (1p35.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 163 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.33913774T>G
GRCh37.p13 chr 1	NC_000001.10:g.34379375T>G

Gene: CSMD2, CUB and Sushi multiple domains 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CSMD2 transcript variant 1	NM_001281956.1:c.	N/A	Intron Variant
CSMD2 transcript variant 2	NM_052896.4:c.	N/A	Intron Variant
CSMD2 transcript variant X1	XM_017000185.1:c.	N/A	Intron Variant
CSMD2 transcript variant X2	XM_017000186.1:c.	N/A	Intron Variant
CSMD2 transcript variant X3	XM_017000187.1:c.	N/A	Intron Variant
CSMD2 transcript variant X4	XM_017000188.1:c.	N/A	Intron Variant
CSMD2 transcript variant X5	XM_017000189.1:c.	N/A	Intron Variant
CSMD2 transcript variant X6	XM_017000190.1:c.	N/A	Intron Variant
CSMD2 transcript variant X7	XM_017000191.1:c.	N/A	Intron Variant
CSMD2 transcript variant X8	XM_017000192.1:c.	N/A	Intron Variant
CSMD2 transcript variant X9	XM_017000193.1:c.	N/A	Intron Variant
CSMD2 transcript variant X10	XM_017000194.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.436	G=0.564
1000Genomes	American	Sub	694	T=0.820	G=0.180
1000Genomes	East Asian	Sub	1008	T=0.918	G=0.082
1000Genomes	Europe	Sub	1006	T=0.758	G=0.242
1000Genomes	Global	Study-wide	5008	T=0.709	G=0.291
1000Genomes	South Asian	Sub	978	T=0.730	G=0.270
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.758	G=0.242
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.652	G=0.347
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.789	G=0.211

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
rs7536114	0.00012	alcohol dependence	20201924

eQTL of rs7536114 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 rs7536114 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	34342662	34342906	E067	-36469
chr1	34351996	34352471	E067	-26904
chr1	34358698	34358778	E067	-20597
chr1	34358817	34359067	E067	-20308
chr1	34359086	34359387	E067	-19988
chr1	34367893	34368489	E067	-10886
chr1	34368500	34368768	E067	-10607
chr1	34368890	34369110	E067	-10265
chr1	34373839	34373889	E067	-5486
chr1	34373974	34374177	E067	-5198
chr1	34374204	34374258	E067	-5117
chr1	34374324	34374722	E067	-4653
chr1	34374777	34374826	E067	-4549
chr1	34391239	34391482	E067	11864
chr1	34396173	34396420	E067	16798
chr1	34407181	34407231	E067	27806
chr1	34425896	34425958	E067	46521
chr1	34340278	34340375	E068	-39000
chr1	34351996	34352471	E068	-26904
chr1	34358698	34358778	E068	-20597
chr1	34358817	34359067	E068	-20308
chr1	34359086	34359387	E068	-19988
chr1	34373839	34373889	E068	-5486
chr1	34373974	34374177	E068	-5198
chr1	34374204	34374258	E068	-5117
chr1	34374324	34374722	E068	-4653
chr1	34374777	34374826	E068	-4549
chr1	34396173	34396420	E068	16798
chr1	34396494	34396632	E068	17119
chr1	34407181	34407231	E068	27806
chr1	34407800	34407895	E068	28425
chr1	34423496	34423768	E068	44121
chr1	34424620	34424715	E068	45245
chr1	34424776	34424903	E068	45401
chr1	34425896	34425958	E068	46521
chr1	34351996	34352471	E069	-26904
chr1	34358817	34359067	E069	-20308
chr1	34359086	34359387	E069	-19988
chr1	34362921	34363085	E069	-16290
chr1	34363137	34363241	E069	-16134
chr1	34363686	34363926	E069	-15449
chr1	34364119	34364376	E069	-14999
chr1	34364566	34364731	E069	-14644
chr1	34367893	34368489	E069	-10886
chr1	34368500	34368768	E069	-10607
chr1	34373974	34374177	E069	-5198
chr1	34374204	34374258	E069	-5117
chr1	34374324	34374722	E069	-4653
chr1	34374777	34374826	E069	-4549
chr1	34391239	34391482	E069	11864
chr1	34396173	34396420	E069	16798
chr1	34396494	34396632	E069	17119
chr1	34415322	34415372	E069	35947
chr1	34424776	34424903	E069	45401
chr1	34425896	34425958	E069	46521
chr1	34332014	34332146	E070	-47229
chr1	34363686	34363926	E070	-15449
chr1	34364119	34364376	E070	-14999
chr1	34367893	34368489	E070	-10886
chr1	34368500	34368768	E070	-10607
chr1	34368890	34369110	E070	-10265
chr1	34338448	34338592	E071	-40783
chr1	34340278	34340375	E071	-39000
chr1	34340417	34340588	E071	-38787
chr1	34341617	34341696	E071	-37679
chr1	34351996	34352471	E071	-26904
chr1	34358817	34359067	E071	-20308
chr1	34359086	34359387	E071	-19988
chr1	34364119	34364376	E071	-14999
chr1	34364566	34364731	E071	-14644
chr1	34365008	34365124	E071	-14251
chr1	34365430	34365486	E071	-13889
chr1	34367893	34368489	E071	-10886
chr1	34368500	34368768	E071	-10607
chr1	34368890	34369110	E071	-10265
chr1	34373839	34373889	E071	-5486
chr1	34373974	34374177	E071	-5198
chr1	34374204	34374258	E071	-5117
chr1	34374324	34374722	E071	-4653
chr1	34374777	34374826	E071	-4549
chr1	34396173	34396420	E071	16798
chr1	34396494	34396632	E071	17119
chr1	34406191	34406325	E071	26816
chr1	34406368	34406522	E071	26993
chr1	34407181	34407231	E071	27806
chr1	34415322	34415372	E071	35947
chr1	34425896	34425958	E071	46521
chr1	34340278	34340375	E072	-39000
chr1	34340417	34340588	E072	-38787
chr1	34341617	34341696	E072	-37679
chr1	34342662	34342906	E072	-36469
chr1	34358698	34358778	E072	-20597
chr1	34358817	34359067	E072	-20308
chr1	34359086	34359387	E072	-19988
chr1	34362921	34363085	E072	-16290
chr1	34363137	34363241	E072	-16134
chr1	34363686	34363926	E072	-15449
chr1	34364119	34364376	E072	-14999
chr1	34364566	34364731	E072	-14644
chr1	34365430	34365486	E072	-13889
chr1	34367893	34368489	E072	-10886
chr1	34368500	34368768	E072	-10607
chr1	34368890	34369110	E072	-10265
chr1	34373974	34374177	E072	-5198
chr1	34374204	34374258	E072	-5117
chr1	34374324	34374722	E072	-4653
chr1	34374777	34374826	E072	-4549
chr1	34396173	34396420	E072	16798
chr1	34396494	34396632	E072	17119
chr1	34423496	34423768	E072	44121
chr1	34425896	34425958	E072	46521
chr1	34358698	34358778	E073	-20597
chr1	34358817	34359067	E073	-20308
chr1	34359086	34359387	E073	-19988
chr1	34373974	34374177	E073	-5198
chr1	34374204	34374258	E073	-5117
chr1	34374324	34374722	E073	-4653
chr1	34374777	34374826	E073	-4549
chr1	34423496	34423768	E073	44121
chr1	34351996	34352471	E074	-26904
chr1	34363686	34363926	E074	-15449
chr1	34364119	34364376	E074	-14999
chr1	34364566	34364731	E074	-14644
chr1	34365008	34365124	E074	-14251
chr1	34368890	34369110	E074	-10265
chr1	34373974	34374177	E074	-5198
chr1	34374204	34374258	E074	-5117
chr1	34374324	34374722	E074	-4653
chr1	34374777	34374826	E074	-4549
chr1	34396173	34396420	E074	16798
chr1	34396494	34396632	E074	17119
chr1	34406191	34406325	E074	26816
chr1	34406368	34406522	E074	26993
chr1	34425896	34425958	E074	46521
chr1	34332014	34332146	E081	-47229
chr1	34333602	34333728	E081	-45647
chr1	34351996	34352471	E081	-26904
chr1	34358698	34358778	E081	-20597
chr1	34358817	34359067	E081	-20308
chr1	34359086	34359387	E081	-19988
chr1	34367893	34368489	E081	-10886
chr1	34368500	34368768	E081	-10607
chr1	34368890	34369110	E081	-10265
chr1	34373974	34374177	E081	-5198
chr1	34374204	34374258	E081	-5117
chr1	34374324	34374722	E081	-4653
chr1	34420847	34420901	E081	41472
chr1	34422012	34422119	E081	42637
chr1	34423496	34423768	E081	44121
chr1	34332014	34332146	E082	-47229
chr1	34340417	34340588	E082	-38787
chr1	34351996	34352471	E082	-26904
chr1	34358817	34359067	E082	-20308
chr1	34359086	34359387	E082	-19988
chr1	34363686	34363926	E082	-15449
chr1	34364119	34364376	E082	-14999
chr1	34367893	34368489	E082	-10886
chr1	34368500	34368768	E082	-10607
chr1	34368890	34369110	E082	-10265
chr1	34371831	34372051	E082	-7324
chr1	34374204	34374258	E082	-5117
chr1	34422012	34422119	E082	42637
chr1	34423496	34423768	E082	44121