rs731024

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ZBTB48 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0259 (7762/29934,GnomAD)
A=0204 (5940/29118,TOPMED)
A=0288 (1440/5008,1000G)
A=0323 (1243/3854,ALSPAC)
A=0336 (1247/3708,TWINSUK)

Position: chr1:6584663 (GRCh38.p7) (1p36.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 210 Enhancers around

Promoter: 83 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.6584663G>A
GRCh37.p13 chr 1	NC_000001.10:g.6644723G>A

Gene: ZBTB48, zinc finger and BTB domain containing 48(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZBTB48 transcript variant 2	NM_001278647.1:c.	N/A	Intron Variant
ZBTB48 transcript variant 3	NM_001278648.1:c.	N/A	Intron Variant
ZBTB48 transcript variant 1	NM_005341.3:c.	N/A	Intron Variant
ZBTB48 transcript variant X4	XM_017001110.1:c.	N/A	Intron Variant
ZBTB48 transcript variant X5	XM_017001111.1:c.	N/A	Intron Variant
ZBTB48 transcript variant X7	XM_017001112.1:c.	N/A	Intron Variant
ZBTB48 transcript variant X8	XM_017001113.1:c.	N/A	Intron Variant
ZBTB48 transcript variant X9	XM_017001114.1:c.	N/A	Intron Variant
ZBTB48 transcript variant X2	XR_001737135.1:n.	N/A	Intron Variant
ZBTB48 transcript variant X3	XR_001737136.1:n.	N/A	Intron Variant
ZBTB48 transcript variant X6	XR_001737137.1:n.	N/A	Intron Variant
ZBTB48 transcript variant X1	XR_946621.2:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.951	A=0.049
1000Genomes	American	Sub	694	G=0.690	A=0.310
1000Genomes	East Asian	Sub	1008	G=0.619	A=0.381
1000Genomes	Europe	Sub	1006	G=0.680	A=0.320
1000Genomes	Global	Study-wide	5008	G=0.712	A=0.288
1000Genomes	South Asian	Sub	978	G=0.540	A=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.677	A=0.323
The Genome Aggregation Database	African	Sub	8728	G=0.916	A=0.084
The Genome Aggregation Database	American	Sub	838	G=0.740	A=0.260
The Genome Aggregation Database	East Asian	Sub	1614	G=0.589	A=0.411
The Genome Aggregation Database	Europe	Sub	18452	G=0.673	A=0.326
The Genome Aggregation Database	Global	Study-wide	29934	G=0.740	A=0.259
The Genome Aggregation Database	Other	Sub	302	G=0.620	A=0.380
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.796	A=0.204
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.664	A=0.336

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

P-Value

SNP ID	p-value	Traits	Study
rs731024	0.000458	alcohol dependence	24277619

eQTL of rs731024 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 rs731024 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	6638260	6638597	E067	-6126
chr1	6638687	6638847	E067	-5876
chr1	6638887	6639107	E067	-5616
chr1	6641511	6641555	E067	-3168
chr1	6641788	6642808	E067	-1915
chr1	6646736	6646919	E067	2013
chr1	6647085	6648478	E067	2362
chr1	6651994	6652253	E067	7271
chr1	6652302	6652381	E067	7579
chr1	6652594	6652734	E067	7871
chr1	6652847	6652897	E067	8124
chr1	6656573	6656638	E067	11850
chr1	6656764	6656871	E067	12041
chr1	6657001	6657085	E067	12278
chr1	6657134	6657643	E067	12411
chr1	6657753	6657901	E067	13030
chr1	6657957	6658162	E067	13234
chr1	6658603	6658686	E067	13880
chr1	6686857	6686906	E067	42134
chr1	6687111	6687194	E067	42388
chr1	6606364	6606467	E068	-38256
chr1	6606552	6606618	E068	-38105
chr1	6615704	6615770	E068	-28953
chr1	6638260	6638597	E068	-6126
chr1	6638687	6638847	E068	-5876
chr1	6638887	6639107	E068	-5616
chr1	6641511	6641555	E068	-3168
chr1	6641788	6642808	E068	-1915
chr1	6646736	6646919	E068	2013
chr1	6647085	6648478	E068	2362
chr1	6650915	6651002	E068	6192
chr1	6651268	6651386	E068	6545
chr1	6651392	6651549	E068	6669
chr1	6651994	6652253	E068	7271
chr1	6652302	6652381	E068	7579
chr1	6652594	6652734	E068	7871
chr1	6652847	6652897	E068	8124
chr1	6653171	6653241	E068	8448
chr1	6656573	6656638	E068	11850
chr1	6656764	6656871	E068	12041
chr1	6657001	6657085	E068	12278
chr1	6657134	6657643	E068	12411
chr1	6657753	6657901	E068	13030
chr1	6657957	6658162	E068	13234
chr1	6658603	6658686	E068	13880
chr1	6659017	6659208	E068	14294
chr1	6664916	6665010	E068	20193
chr1	6665114	6665226	E068	20391
chr1	6669409	6669721	E068	24686
chr1	6601845	6601905	E069	-42818
chr1	6612289	6612352	E069	-32371
chr1	6615704	6615770	E069	-28953
chr1	6638260	6638597	E069	-6126
chr1	6638687	6638847	E069	-5876
chr1	6638887	6639107	E069	-5616
chr1	6641511	6641555	E069	-3168
chr1	6641788	6642808	E069	-1915
chr1	6646736	6646919	E069	2013
chr1	6647085	6648478	E069	2362
chr1	6651268	6651386	E069	6545
chr1	6651392	6651549	E069	6669
chr1	6651994	6652253	E069	7271
chr1	6652302	6652381	E069	7579
chr1	6652594	6652734	E069	7871
chr1	6652847	6652897	E069	8124
chr1	6656573	6656638	E069	11850
chr1	6656764	6656871	E069	12041
chr1	6657001	6657085	E069	12278
chr1	6657134	6657643	E069	12411
chr1	6657753	6657901	E069	13030
chr1	6657957	6658162	E069	13234
chr1	6658603	6658686	E069	13880
chr1	6659017	6659208	E069	14294
chr1	6664916	6665010	E069	20193
chr1	6665114	6665226	E069	20391
chr1	6669409	6669721	E069	24686
chr1	6669759	6670017	E069	25036
chr1	6686857	6686906	E069	42134
chr1	6687111	6687194	E069	42388
chr1	6615704	6615770	E070	-28953
chr1	6641511	6641555	E070	-3168
chr1	6641788	6642808	E070	-1915
chr1	6647085	6648478	E070	2362
chr1	6656573	6656638	E070	11850
chr1	6656764	6656871	E070	12041
chr1	6657001	6657085	E070	12278
chr1	6671846	6671981	E070	27123
chr1	6686857	6686906	E070	42134
chr1	6687111	6687194	E070	42388
chr1	6687284	6687370	E070	42561
chr1	6606364	6606467	E071	-38256
chr1	6606552	6606618	E071	-38105
chr1	6638260	6638597	E071	-6126
chr1	6638687	6638847	E071	-5876
chr1	6638887	6639107	E071	-5616
chr1	6641511	6641555	E071	-3168
chr1	6647085	6648478	E071	2362
chr1	6648579	6648711	E071	3856
chr1	6648755	6648858	E071	4032
chr1	6648898	6649021	E071	4175
chr1	6649073	6649127	E071	4350
chr1	6649206	6649566	E071	4483
chr1	6649661	6649755	E071	4938
chr1	6649765	6649926	E071	5042
chr1	6651268	6651386	E071	6545
chr1	6651392	6651549	E071	6669
chr1	6651994	6652253	E071	7271
chr1	6652302	6652381	E071	7579
chr1	6652594	6652734	E071	7871
chr1	6652847	6652897	E071	8124
chr1	6656573	6656638	E071	11850
chr1	6656764	6656871	E071	12041
chr1	6657001	6657085	E071	12278
chr1	6657134	6657643	E071	12411
chr1	6657753	6657901	E071	13030
chr1	6657957	6658162	E071	13234
chr1	6658603	6658686	E071	13880
chr1	6664916	6665010	E071	20193
chr1	6665114	6665226	E071	20391
chr1	6671846	6671981	E071	27123
chr1	6686857	6686906	E071	42134
chr1	6601845	6601905	E072	-42818
chr1	6615704	6615770	E072	-28953
chr1	6638260	6638597	E072	-6126
chr1	6638687	6638847	E072	-5876
chr1	6638887	6639107	E072	-5616
chr1	6644308	6644482	E072	-241
chr1	6646157	6646208	E072	1434
chr1	6646736	6646919	E072	2013
chr1	6647085	6648478	E072	2362
chr1	6649206	6649566	E072	4483
chr1	6649661	6649755	E072	4938
chr1	6649765	6649926	E072	5042
chr1	6650915	6651002	E072	6192
chr1	6651268	6651386	E072	6545
chr1	6651392	6651549	E072	6669
chr1	6651994	6652253	E072	7271
chr1	6656573	6656638	E072	11850
chr1	6656764	6656871	E072	12041
chr1	6657001	6657085	E072	12278
chr1	6657134	6657643	E072	12411
chr1	6657753	6657901	E072	13030
chr1	6657957	6658162	E072	13234
chr1	6659017	6659208	E072	14294
chr1	6669409	6669721	E072	24686
chr1	6669759	6670017	E072	25036
chr1	6686857	6686906	E072	42134
chr1	6638260	6638597	E073	-6126
chr1	6638687	6638847	E073	-5876
chr1	6641511	6641555	E073	-3168
chr1	6641788	6642808	E073	-1915
chr1	6644308	6644482	E073	-241
chr1	6644635	6644756	E073	0
chr1	6644818	6645072	E073	95
chr1	6645238	6645777	E073	515
chr1	6645934	6646021	E073	1211
chr1	6646157	6646208	E073	1434
chr1	6646736	6646919	E073	2013
chr1	6647085	6648478	E073	2362
chr1	6651268	6651386	E073	6545
chr1	6651392	6651549	E073	6669
chr1	6651994	6652253	E073	7271
chr1	6652302	6652381	E073	7579
chr1	6652594	6652734	E073	7871
chr1	6652847	6652897	E073	8124
chr1	6653171	6653241	E073	8448
chr1	6656573	6656638	E073	11850
chr1	6656764	6656871	E073	12041
chr1	6657001	6657085	E073	12278
chr1	6657134	6657643	E073	12411
chr1	6657753	6657901	E073	13030
chr1	6657957	6658162	E073	13234
chr1	6658603	6658686	E073	13880
chr1	6664916	6665010	E073	20193
chr1	6665114	6665226	E073	20391
chr1	6671846	6671981	E073	27123
chr1	6672072	6672154	E073	27349
chr1	6686857	6686906	E073	42134
chr1	6687111	6687194	E073	42388
chr1	6687284	6687370	E073	42561
chr1	6601845	6601905	E074	-42818
chr1	6602020	6602063	E074	-42660
chr1	6602152	6602199	E074	-42524
chr1	6615704	6615770	E074	-28953
chr1	6638260	6638597	E074	-6126
chr1	6638687	6638847	E074	-5876
chr1	6638887	6639107	E074	-5616
chr1	6646736	6646919	E074	2013
chr1	6647085	6648478	E074	2362
chr1	6648579	6648711	E074	3856
chr1	6648755	6648858	E074	4032
chr1	6656573	6656638	E074	11850
chr1	6656764	6656871	E074	12041
chr1	6657001	6657085	E074	12278
chr1	6657134	6657643	E074	12411
chr1	6657753	6657901	E074	13030
chr1	6657957	6658162	E074	13234
chr1	6658603	6658686	E074	13880
chr1	6671846	6671981	E074	27123
chr1	6672072	6672154	E074	27349
chr1	6641511	6641555	E081	-3168
chr1	6641788	6642808	E081	-1915
chr1	6671846	6671981	E081	27123
chr1	6672072	6672154	E081	27349
chr1	6676123	6676183	E081	31400
chr1	6676370	6676578	E081	31647
chr1	6686857	6686906	E081	42134
chr1	6641511	6641555	E082	-3168
chr1	6641788	6642808	E082	-1915
chr1	6672072	6672154	E082	27349

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	6613968	6614056	E067	-30667
chr1	6614092	6614177	E067	-30546
chr1	6614181	6615639	E067	-29084
chr1	6660603	6664818	E067	15880
chr1	6672478	6675107	E067	27755
chr1	6675119	6675282	E067	30396
chr1	6675302	6675535	E067	30579
chr1	6675620	6675880	E067	30897
chr1	6684611	6686176	E067	39888
chr1	6613968	6614056	E068	-30667
chr1	6614092	6614177	E068	-30546
chr1	6614181	6615639	E068	-29084
chr1	6660603	6664818	E068	15880
chr1	6672478	6675107	E068	27755
chr1	6675119	6675282	E068	30396
chr1	6675302	6675535	E068	30579
chr1	6675620	6675880	E068	30897
chr1	6684611	6686176	E068	39888
chr1	6613968	6614056	E069	-30667
chr1	6614092	6614177	E069	-30546
chr1	6614181	6615639	E069	-29084
chr1	6660603	6664818	E069	15880
chr1	6672478	6675107	E069	27755
chr1	6675119	6675282	E069	30396
chr1	6675302	6675535	E069	30579
chr1	6675620	6675880	E069	30897
chr1	6684611	6686176	E069	39888
chr1	6613968	6614056	E070	-30667
chr1	6614092	6614177	E070	-30546
chr1	6614181	6615639	E070	-29084
chr1	6672478	6675107	E070	27755
chr1	6675119	6675282	E070	30396
chr1	6675302	6675535	E070	30579
chr1	6675620	6675880	E070	30897
chr1	6684611	6686176	E070	39888
chr1	6613968	6614056	E071	-30667
chr1	6614092	6614177	E071	-30546
chr1	6614181	6615639	E071	-29084
chr1	6660603	6664818	E071	15880
chr1	6672478	6675107	E071	27755
chr1	6675119	6675282	E071	30396
chr1	6675302	6675535	E071	30579
chr1	6675620	6675880	E071	30897
chr1	6684611	6686176	E071	39888
chr1	6613968	6614056	E072	-30667
chr1	6614092	6614177	E072	-30546
chr1	6614181	6615639	E072	-29084
chr1	6660603	6664818	E072	15880
chr1	6672478	6675107	E072	27755
chr1	6675119	6675282	E072	30396
chr1	6675302	6675535	E072	30579
chr1	6675620	6675880	E072	30897
chr1	6684611	6686176	E072	39888
chr1	6613968	6614056	E073	-30667
chr1	6614092	6614177	E073	-30546
chr1	6614181	6615639	E073	-29084
chr1	6660603	6664818	E073	15880
chr1	6672478	6675107	E073	27755
chr1	6675119	6675282	E073	30396
chr1	6675302	6675535	E073	30579
chr1	6675620	6675880	E073	30897
chr1	6684611	6686176	E073	39888
chr1	6613968	6614056	E074	-30667
chr1	6614092	6614177	E074	-30546
chr1	6614181	6615639	E074	-29084
chr1	6630982	6631068	E074	-13655
chr1	6660603	6664818	E074	15880
chr1	6672478	6675107	E074	27755
chr1	6675302	6675535	E074	30579
chr1	6675620	6675880	E074	30897
chr1	6684611	6686176	E074	39888
chr1	6613968	6614056	E081	-30667
chr1	6614092	6614177	E081	-30546
chr1	6614181	6615639	E081	-29084
chr1	6613968	6614056	E082	-30667
chr1	6614092	6614177	E082	-30546
chr1	6614181	6615639	E082	-29084
chr1	6660603	6664818	E082	15880
chr1	6672478	6675107	E082	27755
chr1	6675119	6675282	E082	30396
chr1	6675302	6675535	E082	30579
chr1	6675620	6675880	E082	30897
chr1	6684611	6686176	E082	39888