rs7529561

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

KAZN : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0153 (4572/29850,GnomAD)
C=0151 (4411/29118,TOPMED)
C=0235 (1178/5008,1000G)
C=0154 (593/3854,ALSPAC)
C=0155 (576/3708,TWINSUK)

Position: chr1:15001655 (GRCh38.p7) (1p36.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 209 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.15001655A>C
GRCh37.p13 chr 1	NC_000001.10:g.15328151A>C
KAZN RefSeqGene	NG_029844.1:g.407939A>C

Gene: KAZN, kazrin, periplakin interacting protein(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KAZN transcript variant D	NM_001017999.2:c.	N/A	Intron Variant
KAZN transcript variant B	NM_001018000.3:c.	N/A	Intron Variant
KAZN transcript variant C	NM_001018001.2:c.	N/A	Intron Variant
KAZN transcript variant A	NM_015209.2:c.	N/A	Intron Variant
KAZN transcript variant E	NM_201628.2:c.	N/A	Intron Variant
KAZN transcript variant X3	XM_005245795.4:c.	N/A	Intron Variant
KAZN transcript variant X1	XM_011541074.2:c.	N/A	Intron Variant
KAZN transcript variant X2	XM_011541075.2:c.	N/A	Intron Variant
KAZN transcript variant X4	XM_011541076.2:c.	N/A	Intron Variant
KAZN transcript variant X5	XM_011541077.2:c.	N/A	Intron Variant
KAZN transcript variant X6	XM_011541080.2:c.	N/A	Intron Variant
KAZN transcript variant X8	XM_017000768.1:c.	N/A	Intron Variant
KAZN transcript variant X9	XM_017000769.1:c.	N/A	Intron Variant
KAZN transcript variant X10	XM_017000770.1:c.	N/A	Intron Variant
KAZN transcript variant X10	XM_017000771.1:c.	N/A	Intron Variant
KAZN transcript variant X12	XM_017000772.1:c.	N/A	Intron Variant
KAZN transcript variant X7	XM_011541081.2:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.880	C=0.120
1000Genomes	American	Sub	694	A=0.760	C=0.240
1000Genomes	East Asian	Sub	1008	A=0.681	C=0.319
1000Genomes	Europe	Sub	1006	A=0.820	C=0.180
1000Genomes	Global	Study-wide	5008	A=0.765	C=0.235
1000Genomes	South Asian	Sub	978	A=0.640	C=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.846	C=0.154
The Genome Aggregation Database	African	Sub	8702	A=0.878	C=0.122
The Genome Aggregation Database	American	Sub	836	A=0.780	C=0.220
The Genome Aggregation Database	East Asian	Sub	1606	A=0.653	C=0.347
The Genome Aggregation Database	Europe	Sub	18404	A=0.853	C=0.146
The Genome Aggregation Database	Global	Study-wide	29850	A=0.846	C=0.153
The Genome Aggregation Database	Other	Sub	302	A=0.790	C=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.848	C=0.151
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.845	C=0.155

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
rs7529561	0.000353	alcohol consumption (maxi-drinks)	24277619

eQTL of rs7529561 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 rs7529561 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	15282039	15282169	E067	-45982
chr1	15282540	15282756	E067	-45395
chr1	15294700	15295834	E067	-32317
chr1	15296686	15297696	E067	-30455
chr1	15306710	15306898	E067	-21253
chr1	15307047	15307105	E067	-21046
chr1	15307173	15307705	E067	-20446
chr1	15312759	15312912	E067	-15239
chr1	15313027	15313093	E067	-15058
chr1	15314395	15315105	E067	-13046
chr1	15322593	15323661	E067	-4490
chr1	15334269	15334348	E067	6118
chr1	15334399	15334520	E067	6248
chr1	15334547	15334751	E067	6396
chr1	15334793	15334907	E067	6642
chr1	15341100	15341250	E067	12949
chr1	15341310	15341417	E067	13159
chr1	15349716	15350049	E067	21565
chr1	15353965	15354431	E067	25814
chr1	15354454	15354514	E067	26303
chr1	15354549	15354962	E067	26398
chr1	15355312	15355367	E067	27161
chr1	15356201	15356357	E067	28050
chr1	15369115	15369701	E067	40964
chr1	15370541	15370681	E067	42390
chr1	15294700	15295834	E068	-32317
chr1	15306710	15306898	E068	-21253
chr1	15307047	15307105	E068	-21046
chr1	15307173	15307705	E068	-20446
chr1	15312759	15312912	E068	-15239
chr1	15313027	15313093	E068	-15058
chr1	15321134	15321184	E068	-6967
chr1	15321358	15321847	E068	-6304
chr1	15333642	15333696	E068	5491
chr1	15334269	15334348	E068	6118
chr1	15334399	15334520	E068	6248
chr1	15334547	15334751	E068	6396
chr1	15334793	15334907	E068	6642
chr1	15336055	15336179	E068	7904
chr1	15349716	15350049	E068	21565
chr1	15353965	15354431	E068	25814
chr1	15354454	15354514	E068	26303
chr1	15354549	15354962	E068	26398
chr1	15355312	15355367	E068	27161
chr1	15369115	15369701	E068	40964
chr1	15370541	15370681	E068	42390
chr1	15282540	15282756	E069	-45395
chr1	15294700	15295834	E069	-32317
chr1	15296686	15297696	E069	-30455
chr1	15298240	15298589	E069	-29562
chr1	15306710	15306898	E069	-21253
chr1	15307047	15307105	E069	-21046
chr1	15307173	15307705	E069	-20446
chr1	15314395	15315105	E069	-13046
chr1	15321358	15321847	E069	-6304
chr1	15322108	15322216	E069	-5935
chr1	15322423	15322486	E069	-5665
chr1	15322593	15323661	E069	-4490
chr1	15324405	15324571	E069	-3580
chr1	15334269	15334348	E069	6118
chr1	15334399	15334520	E069	6248
chr1	15334547	15334751	E069	6396
chr1	15353965	15354431	E069	25814
chr1	15354454	15354514	E069	26303
chr1	15354549	15354962	E069	26398
chr1	15355312	15355367	E069	27161
chr1	15367318	15367408	E069	39167
chr1	15367522	15367592	E069	39371
chr1	15369115	15369701	E069	40964
chr1	15370541	15370681	E069	42390
chr1	15372986	15373434	E069	44835
chr1	15282540	15282756	E070	-45395
chr1	15314395	15315105	E070	-13046
chr1	15279550	15280021	E071	-48130
chr1	15294700	15295834	E071	-32317
chr1	15296686	15297696	E071	-30455
chr1	15298240	15298589	E071	-29562
chr1	15303829	15304123	E071	-24028
chr1	15304277	15304321	E071	-23830
chr1	15304602	15304839	E071	-23312
chr1	15306710	15306898	E071	-21253
chr1	15307047	15307105	E071	-21046
chr1	15307173	15307705	E071	-20446
chr1	15314395	15315105	E071	-13046
chr1	15321358	15321847	E071	-6304
chr1	15322108	15322216	E071	-5935
chr1	15322423	15322486	E071	-5665
chr1	15322593	15323661	E071	-4490
chr1	15324405	15324571	E071	-3580
chr1	15325799	15325892	E071	-2259
chr1	15325927	15326155	E071	-1996
chr1	15332333	15332386	E071	4182
chr1	15332394	15332451	E071	4243
chr1	15334269	15334348	E071	6118
chr1	15334399	15334520	E071	6248
chr1	15334547	15334751	E071	6396
chr1	15334793	15334907	E071	6642
chr1	15335162	15335313	E071	7011
chr1	15335335	15335571	E071	7184
chr1	15335634	15335887	E071	7483
chr1	15336055	15336179	E071	7904
chr1	15341100	15341250	E071	12949
chr1	15341310	15341417	E071	13159
chr1	15347227	15347465	E071	19076
chr1	15354454	15354514	E071	26303
chr1	15354549	15354962	E071	26398
chr1	15355312	15355367	E071	27161
chr1	15356201	15356357	E071	28050
chr1	15356991	15357036	E071	28840
chr1	15357057	15357107	E071	28906
chr1	15357241	15357466	E071	29090
chr1	15367318	15367408	E071	39167
chr1	15367522	15367592	E071	39371
chr1	15369115	15369701	E071	40964
chr1	15370541	15370681	E071	42390
chr1	15372409	15372498	E071	44258
chr1	15372986	15373434	E071	44835
chr1	15373448	15373673	E071	45297
chr1	15294700	15295834	E072	-32317
chr1	15296686	15297696	E072	-30455
chr1	15304277	15304321	E072	-23830
chr1	15304602	15304839	E072	-23312
chr1	15306710	15306898	E072	-21253
chr1	15307047	15307105	E072	-21046
chr1	15307173	15307705	E072	-20446
chr1	15312759	15312912	E072	-15239
chr1	15313027	15313093	E072	-15058
chr1	15314395	15315105	E072	-13046
chr1	15322593	15323661	E072	-4490
chr1	15324405	15324571	E072	-3580
chr1	15332394	15332451	E072	4243
chr1	15334793	15334907	E072	6642
chr1	15335162	15335313	E072	7011
chr1	15341100	15341250	E072	12949
chr1	15341310	15341417	E072	13159
chr1	15349716	15350049	E072	21565
chr1	15353965	15354431	E072	25814
chr1	15354454	15354514	E072	26303
chr1	15354549	15354962	E072	26398
chr1	15355312	15355367	E072	27161
chr1	15356201	15356357	E072	28050
chr1	15367318	15367408	E072	39167
chr1	15369115	15369701	E072	40964
chr1	15370541	15370681	E072	42390
chr1	15279550	15280021	E073	-48130
chr1	15294700	15295834	E073	-32317
chr1	15296686	15297696	E073	-30455
chr1	15298813	15299018	E073	-29133
chr1	15306710	15306898	E073	-21253
chr1	15307047	15307105	E073	-21046
chr1	15307173	15307705	E073	-20446
chr1	15314395	15315105	E073	-13046
chr1	15321134	15321184	E073	-6967
chr1	15321358	15321847	E073	-6304
chr1	15322423	15322486	E073	-5665
chr1	15322593	15323661	E073	-4490
chr1	15324405	15324571	E073	-3580
chr1	15334269	15334348	E073	6118
chr1	15334399	15334520	E073	6248
chr1	15334547	15334751	E073	6396
chr1	15334793	15334907	E073	6642
chr1	15335162	15335313	E073	7011
chr1	15347227	15347465	E073	19076
chr1	15348621	15348897	E073	20470
chr1	15349064	15349170	E073	20913
chr1	15353965	15354431	E073	25814
chr1	15354454	15354514	E073	26303
chr1	15354549	15354962	E073	26398
chr1	15355312	15355367	E073	27161
chr1	15356201	15356357	E073	28050
chr1	15369115	15369701	E073	40964
chr1	15370541	15370681	E073	42390
chr1	15372986	15373434	E073	44835
chr1	15373448	15373673	E073	45297
chr1	15294700	15295834	E074	-32317
chr1	15296686	15297696	E074	-30455
chr1	15298813	15299018	E074	-29133
chr1	15306710	15306898	E074	-21253
chr1	15307047	15307105	E074	-21046
chr1	15307173	15307705	E074	-20446
chr1	15312759	15312912	E074	-15239
chr1	15313027	15313093	E074	-15058
chr1	15314395	15315105	E074	-13046
chr1	15322593	15323661	E074	-4490
chr1	15324405	15324571	E074	-3580
chr1	15333642	15333696	E074	5491
chr1	15334269	15334348	E074	6118
chr1	15334399	15334520	E074	6248
chr1	15334547	15334751	E074	6396
chr1	15341100	15341250	E074	12949
chr1	15341310	15341417	E074	13159
chr1	15353965	15354431	E074	25814
chr1	15354454	15354514	E074	26303
chr1	15354549	15354962	E074	26398
chr1	15355312	15355367	E074	27161
chr1	15367318	15367408	E074	39167
chr1	15367522	15367592	E074	39371
chr1	15369115	15369701	E074	40964
chr1	15370541	15370681	E074	42390
chr1	15372409	15372498	E074	44258
chr1	15372986	15373434	E074	44835
chr1	15373448	15373673	E074	45297
chr1	15341100	15341250	E081	12949
chr1	15341310	15341417	E081	13159
chr1	15284210	15284286	E082	-43865
chr1	15290580	15291200	E082	-36951
chr1	15341100	15341250	E082	12949
chr1	15341310	15341417	E082	13159
chr1	15358119	15358273	E082	29968