rs8043748

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZC3H7A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0365 (10945/29958,GnomAD)
A==0297 (8666/29118,TOPMED)
A==0242 (1213/5008,1000G)
A==0473 (1822/3854,ALSPAC)
A==0473 (1753/3708,TWINSUK)

Position: chr16:11752375 (GRCh38.p7) (16p13.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 242 Enhancers around

Promoter: 19 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.11752375A>G
GRCh37.p13 chr 16	NC_000016.9:g.11846231A>G

Gene: ZC3H7A, zinc finger CCCH-type containing 7A(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZC3H7A transcript	NM_014153.3:c.	N/A	Intron Variant
ZC3H7A transcript variant X2	XM_006720877.2:c.	N/A	Intron Variant
ZC3H7A transcript variant X1	XM_011522463.1:c.	N/A	Intron Variant
ZC3H7A transcript variant X5	XM_011522464.2:c.	N/A	Intron Variant
ZC3H7A transcript variant X3	XM_017023174.1:c.	N/A	Intron Variant
ZC3H7A transcript variant X6	XM_017023175.1:c.	N/A	Intron Variant
ZC3H7A transcript variant X4	XR_932825.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.081	G=0.919
1000Genomes	American	Sub	694	A=0.360	G=0.640
1000Genomes	East Asian	Sub	1008	A=0.141	G=0.859
1000Genomes	Europe	Sub	1006	A=0.477	G=0.523
1000Genomes	Global	Study-wide	5008	A=0.242	G=0.758
1000Genomes	South Asian	Sub	978	A=0.240	G=0.760
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.473	G=0.527
The Genome Aggregation Database	African	Sub	8732	A=0.150	G=0.850
The Genome Aggregation Database	American	Sub	836	A=0.340	G=0.660
The Genome Aggregation Database	East Asian	Sub	1620	A=0.144	G=0.856
The Genome Aggregation Database	Europe	Sub	18468	A=0.484	G=0.515
The Genome Aggregation Database	Global	Study-wide	29958	A=0.365	G=0.634
The Genome Aggregation Database	Other	Sub	302	A=0.530	G=0.470
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.297	G=0.702
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.473	G=0.527

PMID	Title	Author	Journal

P-Value

SNP ID	p-value	Traits	Study
rs8043748	3.32E-05	alcohol consumption	pha001401

eQTL of rs8043748 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 rs8043748 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 )
chr16	11799246	11799800	E067	-46431
chr16	11800001	11800065	E067	-46166
chr16	11800119	11800508	E067	-45723
chr16	11800526	11800637	E067	-45594
chr16	11828579	11828664	E067	-17567
chr16	11828717	11828768	E067	-17463
chr16	11828792	11829139	E067	-17092
chr16	11833997	11834113	E067	-12118
chr16	11834173	11834384	E067	-11847
chr16	11875158	11875441	E067	28927
chr16	11875484	11875538	E067	29253
chr16	11875545	11876424	E067	29314
chr16	11888408	11888904	E067	42177
chr16	11888905	11889347	E067	42674
chr16	11889454	11889561	E067	43223
chr16	11892919	11892973	E067	46688
chr16	11892993	11893050	E067	46762
chr16	11893414	11893920	E067	47183
chr16	11799048	11799088	E068	-47143
chr16	11799091	11799178	E068	-47053
chr16	11800001	11800065	E068	-46166
chr16	11800119	11800508	E068	-45723
chr16	11825154	11825719	E068	-20512
chr16	11827922	11827996	E068	-18235
chr16	11828137	11828286	E068	-17945
chr16	11828291	11828465	E068	-17766
chr16	11828579	11828664	E068	-17567
chr16	11828717	11828768	E068	-17463
chr16	11828792	11829139	E068	-17092
chr16	11829681	11829731	E068	-16500
chr16	11829887	11829959	E068	-16272
chr16	11829991	11830103	E068	-16128
chr16	11830309	11830382	E068	-15849
chr16	11830659	11830723	E068	-15508
chr16	11830931	11831057	E068	-15174
chr16	11833997	11834113	E068	-12118
chr16	11834173	11834384	E068	-11847
chr16	11874374	11874486	E068	28143
chr16	11874541	11874868	E068	28310
chr16	11875002	11875095	E068	28771
chr16	11875158	11875441	E068	28927
chr16	11875484	11875538	E068	29253
chr16	11875545	11876424	E068	29314
chr16	11880078	11880467	E068	33847
chr16	11885099	11885269	E068	38868
chr16	11885306	11885611	E068	39075
chr16	11887504	11888067	E068	41273
chr16	11888087	11888159	E068	41856
chr16	11888408	11888904	E068	42177
chr16	11888905	11889347	E068	42674
chr16	11889454	11889561	E068	43223
chr16	11798395	11798459	E069	-47772
chr16	11798617	11798719	E069	-47512
chr16	11799048	11799088	E069	-47143
chr16	11799091	11799178	E069	-47053
chr16	11799246	11799800	E069	-46431
chr16	11800001	11800065	E069	-46166
chr16	11800119	11800508	E069	-45723
chr16	11800526	11800637	E069	-45594
chr16	11824723	11824850	E069	-21381
chr16	11824989	11825131	E069	-21100
chr16	11828137	11828286	E069	-17945
chr16	11828291	11828465	E069	-17766
chr16	11828579	11828664	E069	-17567
chr16	11828717	11828768	E069	-17463
chr16	11828792	11829139	E069	-17092
chr16	11829681	11829731	E069	-16500
chr16	11831631	11832055	E069	-14176
chr16	11832194	11832312	E069	-13919
chr16	11832492	11832599	E069	-13632
chr16	11832632	11832682	E069	-13549
chr16	11832882	11832992	E069	-13239
chr16	11833041	11833260	E069	-12971
chr16	11833487	11833546	E069	-12685
chr16	11834173	11834384	E069	-11847
chr16	11852100	11852290	E069	5869
chr16	11852327	11852401	E069	6096
chr16	11874374	11874486	E069	28143
chr16	11874541	11874868	E069	28310
chr16	11875002	11875095	E069	28771
chr16	11875158	11875441	E069	28927
chr16	11875484	11875538	E069	29253
chr16	11875545	11876424	E069	29314
chr16	11885099	11885269	E069	38868
chr16	11885306	11885611	E069	39075
chr16	11888408	11888904	E069	42177
chr16	11888905	11889347	E069	42674
chr16	11889454	11889561	E069	43223
chr16	11892919	11892973	E069	46688
chr16	11892993	11893050	E069	46762
chr16	11833487	11833546	E070	-12685
chr16	11834173	11834384	E070	-11847
chr16	11875545	11876424	E070	29314
chr16	11888408	11888904	E070	42177
chr16	11888905	11889347	E070	42674
chr16	11892919	11892973	E070	46688
chr16	11892993	11893050	E070	46762
chr16	11893414	11893920	E070	47183
chr16	11893982	11894141	E070	47751
chr16	11894253	11894474	E070	48022
chr16	11799246	11799800	E071	-46431
chr16	11800001	11800065	E071	-46166
chr16	11800119	11800508	E071	-45723
chr16	11800526	11800637	E071	-45594
chr16	11809984	11810038	E071	-36193
chr16	11810108	11810196	E071	-36035
chr16	11810329	11810452	E071	-35779
chr16	11810515	11810712	E071	-35519
chr16	11828137	11828286	E071	-17945
chr16	11828291	11828465	E071	-17766
chr16	11828579	11828664	E071	-17567
chr16	11828717	11828768	E071	-17463
chr16	11828792	11829139	E071	-17092
chr16	11833041	11833260	E071	-12971
chr16	11833487	11833546	E071	-12685
chr16	11833590	11833640	E071	-12591
chr16	11833997	11834113	E071	-12118
chr16	11834173	11834384	E071	-11847
chr16	11851422	11852034	E071	5191
chr16	11852100	11852290	E071	5869
chr16	11874541	11874868	E071	28310
chr16	11875002	11875095	E071	28771
chr16	11875158	11875441	E071	28927
chr16	11875484	11875538	E071	29253
chr16	11875545	11876424	E071	29314
chr16	11885099	11885269	E071	38868
chr16	11885306	11885611	E071	39075
chr16	11888408	11888904	E071	42177
chr16	11888905	11889347	E071	42674
chr16	11889454	11889561	E071	43223
chr16	11892919	11892973	E071	46688
chr16	11892993	11893050	E071	46762
chr16	11800001	11800065	E072	-46166
chr16	11800119	11800508	E072	-45723
chr16	11800526	11800637	E072	-45594
chr16	11824989	11825131	E072	-21100
chr16	11825154	11825719	E072	-20512
chr16	11828137	11828286	E072	-17945
chr16	11828291	11828465	E072	-17766
chr16	11833997	11834113	E072	-12118
chr16	11834173	11834384	E072	-11847
chr16	11875002	11875095	E072	28771
chr16	11875158	11875441	E072	28927
chr16	11875484	11875538	E072	29253
chr16	11875545	11876424	E072	29314
chr16	11888408	11888904	E072	42177
chr16	11888905	11889347	E072	42674
chr16	11892919	11892973	E072	46688
chr16	11892993	11893050	E072	46762
chr16	11895348	11895879	E072	49117
chr16	11799246	11799800	E073	-46431
chr16	11800001	11800065	E073	-46166
chr16	11800119	11800508	E073	-45723
chr16	11824989	11825131	E073	-21100
chr16	11825154	11825719	E073	-20512
chr16	11828137	11828286	E073	-17945
chr16	11828291	11828465	E073	-17766
chr16	11828579	11828664	E073	-17567
chr16	11828717	11828768	E073	-17463
chr16	11828792	11829139	E073	-17092
chr16	11829887	11829959	E073	-16272
chr16	11829991	11830103	E073	-16128
chr16	11830309	11830382	E073	-15849
chr16	11830659	11830723	E073	-15508
chr16	11832194	11832312	E073	-13919
chr16	11832492	11832599	E073	-13632
chr16	11832632	11832682	E073	-13549
chr16	11832882	11832992	E073	-13239
chr16	11833041	11833260	E073	-12971
chr16	11851422	11852034	E073	5191
chr16	11875158	11875441	E073	28927
chr16	11875484	11875538	E073	29253
chr16	11875545	11876424	E073	29314
chr16	11885306	11885611	E073	39075
chr16	11885639	11885697	E073	39408
chr16	11885778	11885828	E073	39547
chr16	11885967	11886025	E073	39736
chr16	11886255	11886974	E073	40024
chr16	11886977	11887071	E073	40746
chr16	11888087	11888159	E073	41856
chr16	11888408	11888904	E073	42177
chr16	11888905	11889347	E073	42674
chr16	11889454	11889561	E073	43223
chr16	11892919	11892973	E073	46688
chr16	11892993	11893050	E073	46762
chr16	11800001	11800065	E074	-46166
chr16	11800119	11800508	E074	-45723
chr16	11813811	11813926	E074	-32305
chr16	11813964	11814080	E074	-32151
chr16	11827922	11827996	E074	-18235
chr16	11828137	11828286	E074	-17945
chr16	11828291	11828465	E074	-17766
chr16	11828579	11828664	E074	-17567
chr16	11828717	11828768	E074	-17463
chr16	11828792	11829139	E074	-17092
chr16	11875545	11876424	E074	29314
chr16	11888408	11888904	E074	42177
chr16	11888905	11889347	E074	42674
chr16	11889454	11889561	E074	43223
chr16	11892919	11892973	E074	46688
chr16	11892993	11893050	E074	46762
chr16	11893414	11893920	E074	47183
chr16	11893982	11894141	E074	47751
chr16	11798617	11798719	E081	-47512
chr16	11799048	11799088	E081	-47143
chr16	11799091	11799178	E081	-47053
chr16	11799246	11799800	E081	-46431
chr16	11800001	11800065	E081	-46166
chr16	11800119	11800508	E081	-45723
chr16	11831631	11832055	E081	-14176
chr16	11832194	11832312	E081	-13919
chr16	11832492	11832599	E081	-13632
chr16	11833997	11834113	E081	-12118
chr16	11834173	11834384	E081	-11847
chr16	11874374	11874486	E081	28143
chr16	11874541	11874868	E081	28310
chr16	11875002	11875095	E081	28771
chr16	11875158	11875441	E081	28927
chr16	11875484	11875538	E081	29253
chr16	11875545	11876424	E081	29314
chr16	11888905	11889347	E081	42674
chr16	11889454	11889561	E081	43223
chr16	11892919	11892973	E081	46688
chr16	11892993	11893050	E081	46762
chr16	11893414	11893920	E081	47183
chr16	11799246	11799800	E082	-46431
chr16	11800001	11800065	E082	-46166
chr16	11800119	11800508	E082	-45723
chr16	11827922	11827996	E082	-18235
chr16	11828137	11828286	E082	-17945
chr16	11833041	11833260	E082	-12971
chr16	11834173	11834384	E082	-11847
chr16	11874541	11874868	E082	28310
chr16	11875002	11875095	E082	28771
chr16	11875158	11875441	E082	28927
chr16	11875484	11875538	E082	29253
chr16	11875545	11876424	E082	29314
chr16	11885967	11886025	E082	39736
chr16	11888905	11889347	E082	42674
chr16	11889454	11889561	E082	43223
chr16	11893414	11893920	E082	47183
chr16	11893982	11894141	E082	47751

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr16	11835713	11838152	E067	-8079
chr16	11889984	11892724	E067	43753
chr16	11835713	11838152	E068	-8079
chr16	11889984	11892724	E068	43753
chr16	11835713	11838152	E069	-8079
chr16	11889984	11892724	E069	43753
chr16	11835713	11838152	E070	-8079
chr16	11889984	11892724	E070	43753
chr16	11835713	11838152	E071	-8079
chr16	11889984	11892724	E071	43753
chr16	11835713	11838152	E072	-8079
chr16	11889984	11892724	E072	43753
chr16	11835713	11838152	E073	-8079
chr16	11889984	11892724	E073	43753
chr16	11835713	11838152	E074	-8079
chr16	11889984	11892724	E074	43753
chr16	11889984	11892724	E081	43753
chr16	11835713	11838152	E082	-8079
chr16	11889984	11892724	E082	43753