rs7077972

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0338 (10097/29862,GnomAD)
C=0391 (11390/29118,TOPMED)
C=0384 (1925/5008,1000G)
C=0251 (968/3854,ALSPAC)
C=0264 (980/3708,TWINSUK)

Position: chr10:7438730 (GRCh38.p7) (10p14)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 146 Enhancers around

Promoter: 28 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.7438730A>C
GRCh37.p13 chr 10	NC_000010.10:g.7480692A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.411	C=0.589
1000Genomes	American	Sub	694	A=0.750	C=0.250
1000Genomes	East Asian	Sub	1008	A=0.735	C=0.265
1000Genomes	Europe	Sub	1006	A=0.730	C=0.270
1000Genomes	Global	Study-wide	5008	A=0.616	C=0.384
1000Genomes	South Asian	Sub	978	A=0.560	C=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.749	C=0.251
The Genome Aggregation Database	African	Sub	8670	A=0.468	C=0.532
The Genome Aggregation Database	American	Sub	836	A=0.790	C=0.210
The Genome Aggregation Database	East Asian	Sub	1618	A=0.786	C=0.214
The Genome Aggregation Database	Europe	Sub	18436	A=0.737	C=0.262
The Genome Aggregation Database	Global	Study-wide	29862	A=0.661	C=0.338
The Genome Aggregation Database	Other	Sub	302	A=0.620	C=0.380
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.608	C=0.391
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.736	C=0.264

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs7077972	0.000761	alcohol consumption (maxi-drinks)	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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 )
chr10	7439631	7439882	E067	-40810
chr10	7440180	7440278	E067	-40414
chr10	7441065	7441202	E067	-39490
chr10	7441579	7441845	E067	-38847
chr10	7441861	7441987	E067	-38705
chr10	7442096	7442811	E067	-37881
chr10	7487267	7487362	E067	6575
chr10	7430881	7430986	E068	-49706
chr10	7431410	7431645	E068	-49047
chr10	7431877	7431927	E068	-48765
chr10	7431978	7432063	E068	-48629
chr10	7439311	7439539	E068	-41153
chr10	7440180	7440278	E068	-40414
chr10	7441861	7441987	E068	-38705
chr10	7442096	7442811	E068	-37881
chr10	7443564	7443614	E068	-37078
chr10	7443703	7444099	E068	-36593
chr10	7446767	7446817	E068	-33875
chr10	7447174	7447228	E068	-33464
chr10	7447245	7447305	E068	-33387
chr10	7447318	7447605	E068	-33087
chr10	7475060	7475179	E068	-5513
chr10	7475214	7475712	E068	-4980
chr10	7475755	7475890	E068	-4802
chr10	7485646	7485696	E068	4954
chr10	7487267	7487362	E068	6575
chr10	7487541	7488119	E068	6849
chr10	7516952	7517043	E068	36260
chr10	7522377	7522452	E068	41685
chr10	7522566	7522616	E068	41874
chr10	7522650	7523955	E068	41958
chr10	7440180	7440278	E069	-40414
chr10	7440573	7440623	E069	-40069
chr10	7441579	7441845	E069	-38847
chr10	7441861	7441987	E069	-38705
chr10	7442096	7442811	E069	-37881
chr10	7443564	7443614	E069	-37078
chr10	7443703	7444099	E069	-36593
chr10	7444646	7444752	E069	-35940
chr10	7458912	7459479	E069	-21213
chr10	7475214	7475712	E069	-4980
chr10	7475755	7475890	E069	-4802
chr10	7480102	7480381	E069	-311
chr10	7487267	7487362	E069	6575
chr10	7487541	7488119	E069	6849
chr10	7477662	7477832	E070	-2860
chr10	7479650	7479690	E070	-1002
chr10	7479782	7479877	E070	-815
chr10	7480102	7480381	E070	-311
chr10	7517132	7518238	E070	36440
chr10	7430881	7430986	E071	-49706
chr10	7431300	7431350	E071	-49342
chr10	7431410	7431645	E071	-49047
chr10	7431877	7431927	E071	-48765
chr10	7431978	7432063	E071	-48629
chr10	7439311	7439539	E071	-41153
chr10	7439631	7439882	E071	-40810
chr10	7440180	7440278	E071	-40414
chr10	7441579	7441845	E071	-38847
chr10	7441861	7441987	E071	-38705
chr10	7442096	7442811	E071	-37881
chr10	7443564	7443614	E071	-37078
chr10	7443703	7444099	E071	-36593
chr10	7477842	7477904	E071	-2788
chr10	7479266	7479316	E071	-1376
chr10	7479357	7479543	E071	-1149
chr10	7481686	7481736	E071	994
chr10	7482174	7482214	E071	1482
chr10	7483583	7483630	E071	2891
chr10	7483739	7483789	E071	3047
chr10	7483839	7483879	E071	3147
chr10	7484073	7484184	E071	3381
chr10	7484304	7484379	E071	3612
chr10	7484433	7484680	E071	3741
chr10	7484840	7484880	E071	4148
chr10	7485026	7485076	E071	4334
chr10	7485141	7485191	E071	4449
chr10	7485646	7485696	E071	4954
chr10	7487541	7488119	E071	6849
chr10	7500146	7500217	E071	19454
chr10	7500470	7500609	E071	19778
chr10	7500623	7500803	E071	19931
chr10	7511356	7511406	E071	30664
chr10	7511968	7512054	E071	31276
chr10	7516952	7517043	E071	36260
chr10	7522377	7522452	E071	41685
chr10	7522566	7522616	E071	41874
chr10	7431410	7431645	E072	-49047
chr10	7431877	7431927	E072	-48765
chr10	7431978	7432063	E072	-48629
chr10	7439631	7439882	E072	-40810
chr10	7441579	7441845	E072	-38847
chr10	7441861	7441987	E072	-38705
chr10	7442096	7442811	E072	-37881
chr10	7483739	7483789	E072	3047
chr10	7487541	7488119	E072	6849
chr10	7488468	7488519	E072	7776
chr10	7488645	7488698	E072	7953
chr10	7431877	7431927	E073	-48765
chr10	7431978	7432063	E073	-48629
chr10	7441579	7441845	E073	-38847
chr10	7441861	7441987	E073	-38705
chr10	7442096	7442811	E073	-37881
chr10	7447174	7447228	E073	-33464
chr10	7447245	7447305	E073	-33387
chr10	7447318	7447605	E073	-33087
chr10	7487267	7487362	E073	6575
chr10	7516952	7517043	E073	36260
chr10	7431410	7431645	E074	-49047
chr10	7431877	7431927	E074	-48765
chr10	7431978	7432063	E074	-48629
chr10	7432345	7432385	E074	-48307
chr10	7439311	7439539	E074	-41153
chr10	7439631	7439882	E074	-40810
chr10	7440180	7440278	E074	-40414
chr10	7440573	7440623	E074	-40069
chr10	7440924	7440974	E074	-39718
chr10	7441065	7441202	E074	-39490
chr10	7441579	7441845	E074	-38847
chr10	7441861	7441987	E074	-38705
chr10	7442096	7442811	E074	-37881
chr10	7443564	7443614	E074	-37078
chr10	7443703	7444099	E074	-36593
chr10	7465365	7465865	E074	-14827
chr10	7465934	7466003	E074	-14689
chr10	7466111	7466561	E074	-14131
chr10	7475060	7475179	E074	-5513
chr10	7475214	7475712	E074	-4980
chr10	7475755	7475890	E074	-4802
chr10	7487267	7487362	E074	6575
chr10	7487541	7488119	E074	6849
chr10	7488468	7488519	E074	7776
chr10	7488645	7488698	E074	7953
chr10	7488840	7488927	E074	8148
chr10	7511968	7512054	E074	31276
chr10	7512138	7512207	E074	31446
chr10	7512274	7512326	E074	31582
chr10	7512425	7512507	E074	31733
chr10	7512522	7512610	E074	31830
chr10	7516952	7517043	E074	36260
chr10	7522650	7523955	E074	41958
chr10	7516952	7517043	E081	36260
chr10	7517132	7518238	E081	36440
chr10	7442096	7442811	E082	-37881
chr10	7475060	7475179	E082	-5513
chr10	7516952	7517043	E082	36260

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr10	7448659	7455260	E067	-25432
chr10	7486366	7486447	E067	5674
chr10	7486471	7487091	E067	5779
chr10	7448659	7455260	E068	-25432
chr10	7455323	7455434	E068	-25258
chr10	7486366	7486447	E068	5674
chr10	7486471	7487091	E068	5779
chr10	7448659	7455260	E069	-25432
chr10	7486366	7486447	E069	5674
chr10	7486471	7487091	E069	5779
chr10	7486366	7486447	E070	5674
chr10	7486471	7487091	E070	5779
chr10	7448659	7455260	E071	-25432
chr10	7455323	7455434	E071	-25258
chr10	7486366	7486447	E071	5674
chr10	7486471	7487091	E071	5779
chr10	7448659	7455260	E072	-25432
chr10	7455323	7455434	E072	-25258
chr10	7486366	7486447	E072	5674
chr10	7486471	7487091	E072	5779
chr10	7448659	7455260	E073	-25432
chr10	7486471	7487091	E073	5779
chr10	7448659	7455260	E074	-25432
chr10	7486366	7486447	E074	5674
chr10	7486471	7487091	E074	5779
chr10	7448659	7455260	E082	-25432
chr10	7486366	7486447	E082	5674
chr10	7486471	7487091	E082	5779

rs7077972

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs7077972 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7077972 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)