rs7311374

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0091 (2740/29830,GnomAD)
T=0083 (2417/29118,TOPMED)
T=0071 (357/5008,1000G)
T=0150 (578/3854,ALSPAC)
T=0153 (567/3708,TWINSUK)

Position: chr12:27806972 (GRCh38.p7) (12p11.22)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 69 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.27806972C>T
GRCh37.p13 chr 12	NC_000012.11:g.27959905C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.981	T=0.019
1000Genomes	American	Sub	694	C=0.910	T=0.090
1000Genomes	East Asian	Sub	1008	C=1.000	T=0.000
1000Genomes	Europe	Sub	1006	C=0.861	T=0.139
1000Genomes	Global	Study-wide	5008	C=0.929	T=0.071
1000Genomes	South Asian	Sub	978	C=0.870	T=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.850	T=0.150
The Genome Aggregation Database	African	Sub	8698	C=0.965	T=0.035
The Genome Aggregation Database	American	Sub	836	C=0.930	T=0.070
The Genome Aggregation Database	East Asian	Sub	1618	C=0.998	T=0.002
The Genome Aggregation Database	Europe	Sub	18376	C=0.873	T=0.126
The Genome Aggregation Database	Global	Study-wide	29830	C=0.908	T=0.091
The Genome Aggregation Database	Other	Sub	302	C=0.810	T=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.917	T=0.083
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.847	T=0.153

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
rs7311374	0.00039	alcohol dependence	20201924

eQTL of rs7311374 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 rs7311374 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 )
chr12	27931616	27931656	E067	-28249
chr12	27931664	27931714	E067	-28191
chr12	27931770	27931820	E067	-28085
chr12	27940495	27940801	E067	-19104
chr12	27948936	27949181	E067	-10724
chr12	27949258	27949325	E067	-10580
chr12	27991458	27992042	E067	31553
chr12	27992158	27992227	E067	32253
chr12	27950549	27950599	E068	-9306
chr12	27935214	27935264	E069	-24641
chr12	27940495	27940801	E069	-19104
chr12	27948005	27948229	E069	-11676
chr12	27948243	27948433	E069	-11472
chr12	27948936	27949181	E069	-10724
chr12	27949258	27949325	E069	-10580
chr12	27991458	27992042	E069	31553
chr12	27992158	27992227	E069	32253
chr12	27992487	27992527	E069	32582
chr12	27935729	27935836	E070	-24069
chr12	27930779	27930829	E071	-29076
chr12	27935214	27935264	E071	-24641
chr12	27935494	27935629	E071	-24276
chr12	27938525	27938640	E071	-21265
chr12	27938871	27939550	E071	-20355
chr12	27940495	27940801	E071	-19104
chr12	27948005	27948229	E071	-11676
chr12	27948243	27948433	E071	-11472
chr12	27948534	27948589	E071	-11316
chr12	27948936	27949181	E071	-10724
chr12	27949258	27949325	E071	-10580
chr12	27971212	27971683	E071	11307
chr12	27991260	27991388	E071	31355
chr12	27991458	27992042	E071	31553
chr12	27992158	27992227	E071	32253
chr12	27929428	27929483	E072	-30422
chr12	27930779	27930829	E072	-29076
chr12	27931246	27931381	E072	-28524
chr12	27935214	27935264	E072	-24641
chr12	27935494	27935629	E072	-24276
chr12	27935729	27935836	E072	-24069
chr12	27940495	27940801	E072	-19104
chr12	27948936	27949181	E072	-10724
chr12	27949258	27949325	E072	-10580
chr12	27949504	27949555	E072	-10350
chr12	27949641	27949691	E072	-10214
chr12	27949788	27949838	E072	-10067
chr12	27940495	27940801	E073	-19104
chr12	27948936	27949181	E073	-10724
chr12	27950830	27950870	E073	-9035
chr12	27950893	27950943	E073	-8962
chr12	27991260	27991388	E073	31355
chr12	27991458	27992042	E073	31553
chr12	27931616	27931656	E074	-28249
chr12	27931664	27931714	E074	-28191
chr12	27931770	27931820	E074	-28085
chr12	27935214	27935264	E074	-24641
chr12	27935494	27935629	E074	-24276
chr12	27935729	27935836	E074	-24069
chr12	27940495	27940801	E074	-19104
chr12	27948936	27949181	E074	-10724
chr12	27949258	27949325	E074	-10580
chr12	27971212	27971683	E074	11307
chr12	27991260	27991388	E074	31355
chr12	27991458	27992042	E074	31553
chr12	27931616	27931656	E081	-28249
chr12	27931664	27931714	E081	-28191
chr12	27931770	27931820	E081	-28085
chr12	27935214	27935264	E081	-24641
chr12	27935494	27935629	E081	-24276

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	27932076	27934443	E067	-25462
chr12	27932076	27934443	E068	-25462
chr12	27932076	27934443	E069	-25462
chr12	27932076	27934443	E070	-25462
chr12	27932076	27934443	E071	-25462
chr12	27932076	27934443	E072	-25462
chr12	27932076	27934443	E073	-25462
chr12	27932076	27934443	E074	-25462
chr12	27932076	27934443	E081	-25462
chr12	27932076	27934443	E082	-25462