rs7315319

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

KANSL2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0018 (541/29974,GnomAD)
C=0028 (841/29118,TOPMED)
C=0017 (85/5008,1000G)
C=0000 (1/3854,ALSPAC)
C=0000 (0/3708,TWINSUK)

Position: chr12:48673157 (GRCh38.p7) (12q13.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 124 Enhancers around

Promoter: 57 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.48673157T>C
GRCh37.p13 chr 12	NC_000012.11:g.49066940T>C

Gene: KANSL2, KAT8 regulatory NSL complex subunit 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KANSL2 transcript	NM_017822.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.936	C=0.064
1000Genomes	American	Sub	694	T=1.000	C=0.000
1000Genomes	East Asian	Sub	1008	T=1.000	C=0.000
1000Genomes	Europe	Sub	1006	T=0.999	C=0.001
1000Genomes	Global	Study-wide	5008	T=0.983	C=0.017
1000Genomes	South Asian	Sub	978	T=1.000	C=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=1.000	C=0.000
The Genome Aggregation Database	African	Sub	8722	T=0.939	C=0.061
The Genome Aggregation Database	American	Sub	838	T=1.000	C=0.000
The Genome Aggregation Database	East Asian	Sub	1618	T=1.000	C=0.000
The Genome Aggregation Database	Europe	Sub	18494	T=0.999	C=0.000
The Genome Aggregation Database	Global	Study-wide	29974	T=0.982	C=0.018
The Genome Aggregation Database	Other	Sub	302	T=1.000	C=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.971	C=0.028
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=1.000	C=0.000

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs7315319	0.0000584	alcoholism	pha002891
rs7315319	0.0000584	alcohol dependence	20201924

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 )
chr12	49072632	49072783	E067	5692
chr12	49072795	49072924	E067	5855
chr12	49073224	49073379	E067	6284
chr12	49073439	49073502	E067	6499
chr12	49073534	49073617	E067	6594
chr12	49073724	49073844	E067	6784
chr12	49073880	49073934	E067	6940
chr12	49074010	49074163	E067	7070
chr12	49074281	49074321	E067	7341
chr12	49107614	49107693	E067	40674
chr12	49107740	49107825	E067	40800
chr12	49108195	49108258	E067	41255
chr12	49108430	49108484	E067	41490
chr12	49108600	49108679	E067	41660
chr12	49071114	49071290	E068	4174
chr12	49071603	49071855	E068	4663
chr12	49071893	49071976	E068	4953
chr12	49071979	49072101	E068	5039
chr12	49072273	49072326	E068	5333
chr12	49072331	49072381	E068	5391
chr12	49072462	49072600	E068	5522
chr12	49073439	49073502	E068	6499
chr12	49073534	49073617	E068	6594
chr12	49073724	49073844	E068	6784
chr12	49073880	49073934	E068	6940
chr12	49108195	49108258	E068	41255
chr12	49108430	49108484	E068	41490
chr12	49108600	49108679	E068	41660
chr12	49071603	49071855	E069	4663
chr12	49071893	49071976	E069	4953
chr12	49071979	49072101	E069	5039
chr12	49072273	49072326	E069	5333
chr12	49072331	49072381	E069	5391
chr12	49072462	49072600	E069	5522
chr12	49072632	49072783	E069	5692
chr12	49072795	49072924	E069	5855
chr12	49073224	49073379	E069	6284
chr12	49073439	49073502	E069	6499
chr12	49073534	49073617	E069	6594
chr12	49073724	49073844	E069	6784
chr12	49073880	49073934	E069	6940
chr12	49074010	49074163	E069	7070
chr12	49074281	49074321	E069	7341
chr12	49107403	49107463	E069	40463
chr12	49107526	49107576	E069	40586
chr12	49107614	49107693	E069	40674
chr12	49107740	49107825	E069	40800
chr12	49071050	49071101	E070	4110
chr12	49071114	49071290	E070	4174
chr12	49071603	49071855	E070	4663
chr12	49071893	49071976	E070	4953
chr12	49071979	49072101	E070	5039
chr12	49072273	49072326	E070	5333
chr12	49072331	49072381	E070	5391
chr12	49072462	49072600	E070	5522
chr12	49072632	49072783	E070	5692
chr12	49072795	49072924	E070	5855
chr12	49107403	49107463	E070	40463
chr12	49107526	49107576	E070	40586
chr12	49107614	49107693	E070	40674
chr12	49107740	49107825	E070	40800
chr12	49108195	49108258	E070	41255
chr12	49108430	49108484	E070	41490
chr12	49071979	49072101	E071	5039
chr12	49072273	49072326	E071	5333
chr12	49072331	49072381	E071	5391
chr12	49072462	49072600	E071	5522
chr12	49072632	49072783	E071	5692
chr12	49072795	49072924	E071	5855
chr12	49073224	49073379	E071	6284
chr12	49073439	49073502	E071	6499
chr12	49073534	49073617	E071	6594
chr12	49073724	49073844	E071	6784
chr12	49073880	49073934	E071	6940
chr12	49074010	49074163	E071	7070
chr12	49071893	49071976	E072	4953
chr12	49071979	49072101	E072	5039
chr12	49072462	49072600	E072	5522
chr12	49072632	49072783	E072	5692
chr12	49072795	49072924	E072	5855
chr12	49073224	49073379	E072	6284
chr12	49073439	49073502	E072	6499
chr12	49073534	49073617	E072	6594
chr12	49073724	49073844	E072	6784
chr12	49072632	49072783	E073	5692
chr12	49072795	49072924	E073	5855
chr12	49073224	49073379	E073	6284
chr12	49073439	49073502	E073	6499
chr12	49073534	49073617	E073	6594
chr12	49073724	49073844	E073	6784
chr12	49073880	49073934	E073	6940
chr12	49074010	49074163	E073	7070
chr12	49074281	49074321	E073	7341
chr12	49071603	49071855	E074	4663
chr12	49071893	49071976	E074	4953
chr12	49071979	49072101	E074	5039
chr12	49072273	49072326	E074	5333
chr12	49072331	49072381	E074	5391
chr12	49072462	49072600	E074	5522
chr12	49072632	49072783	E074	5692
chr12	49072795	49072924	E074	5855
chr12	49073224	49073379	E074	6284
chr12	49073439	49073502	E074	6499
chr12	49073534	49073617	E074	6594
chr12	49073724	49073844	E074	6784
chr12	49073880	49073934	E074	6940
chr12	49074010	49074163	E074	7070
chr12	49071050	49071101	E081	4110
chr12	49071114	49071290	E081	4174
chr12	49072632	49072783	E081	5692
chr12	49072795	49072924	E081	5855
chr12	49073224	49073379	E081	6284
chr12	49073439	49073502	E081	6499
chr12	49073534	49073617	E081	6594
chr12	49073724	49073844	E081	6784
chr12	49073880	49073934	E081	6940
chr12	49074010	49074163	E081	7070
chr12	49074281	49074321	E081	7341
chr12	49108430	49108484	E081	41490
chr12	49108600	49108679	E081	41660
chr12	49072273	49072326	E082	5333
chr12	49072331	49072381	E082	5391
chr12	49072462	49072600	E082	5522
chr12	49108195	49108258	E082	41255

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	49075001	49075085	E067	8061
chr12	49075137	49076490	E067	8197
chr12	49109506	49109686	E067	42566
chr12	49109698	49110986	E067	42758
chr12	49111041	49111700	E067	44101
chr12	49074847	49074897	E068	7907
chr12	49075001	49075085	E068	8061
chr12	49075137	49076490	E068	8197
chr12	49076663	49076728	E068	9723
chr12	49109506	49109686	E068	42566
chr12	49109698	49110986	E068	42758
chr12	49111041	49111700	E068	44101
chr12	49075001	49075085	E069	8061
chr12	49075137	49076490	E069	8197
chr12	49109506	49109686	E069	42566
chr12	49109698	49110986	E069	42758
chr12	49111041	49111700	E069	44101
chr12	49074847	49074897	E070	7907
chr12	49075001	49075085	E070	8061
chr12	49075137	49076490	E070	8197
chr12	49076663	49076728	E070	9723
chr12	49109506	49109686	E070	42566
chr12	49109698	49110986	E070	42758
chr12	49111041	49111700	E070	44101
chr12	49075001	49075085	E071	8061
chr12	49075137	49076490	E071	8197
chr12	49076663	49076728	E071	9723
chr12	49109698	49110986	E071	42758
chr12	49111041	49111700	E071	44101
chr12	49074847	49074897	E072	7907
chr12	49075001	49075085	E072	8061
chr12	49075137	49076490	E072	8197
chr12	49076663	49076728	E072	9723
chr12	49076896	49077002	E072	9956
chr12	49109506	49109686	E072	42566
chr12	49109698	49110986	E072	42758
chr12	49111041	49111700	E072	44101
chr12	49075001	49075085	E073	8061
chr12	49075137	49076490	E073	8197
chr12	49109506	49109686	E073	42566
chr12	49109698	49110986	E073	42758
chr12	49111041	49111700	E073	44101
chr12	49075001	49075085	E074	8061
chr12	49075137	49076490	E074	8197
chr12	49109698	49110986	E074	42758
chr12	49111041	49111700	E074	44101
chr12	49074847	49074897	E081	7907
chr12	49075001	49075085	E081	8061
chr12	49075137	49076490	E081	8197
chr12	49111041	49111700	E081	44101
chr12	49074847	49074897	E082	7907
chr12	49075001	49075085	E082	8061
chr12	49075137	49076490	E082	8197
chr12	49076663	49076728	E082	9723
chr12	49109506	49109686	E082	42566
chr12	49109698	49110986	E082	42758
chr12	49111041	49111700	E082	44101

rs7315319

Genomic Coordinates

Gene: KANSL2, KAT8 regulatory NSL complex subunit 2(minus strand)

Population Frequency

P-Value

eQTL of rs7315319 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7315319 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)