rs10861359

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

KIAA1033 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0156 (4681/29916,GnomAD)
A=0139 (4057/29118,TOPMED)
A=0166 (833/5008,1000G)
A=0194 (746/3854,ALSPAC)
A=0187 (695/3708,TWINSUK)

Position: chr12:105168213 (GRCh38.p7) (12q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 101 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.105168213C>A
GRCh37.p13 chr 12	NC_000012.11:g.105561991C>A
WASHC4 RefSeqGene	NG_034157.1:g.65500C>A

Gene: KIAA1033, KIAA1033(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
WASHC4 transcript variant 1	NM_001293640.1:c.	N/A	3 Prime UTR Variant
WASHC4 transcript variant 2	NM_015275.2:c.	N/A	3 Prime UTR Variant
KIAA1033 transcript variant X1	XM_011538073.2:c.	N/A	3 Prime UTR Variant
WASHC4 transcript variant X2	XM_011538074.2:c.	N/A	3 Prime UTR Variant
KIAA1033 transcript variant X7	XM_011538077.2:c.	N/A	Genic Downstream Transcript Variant
KIAA1033 transcript variant X5	XM_017019082.1:c.	N/A	Genic Downstream Transcript Variant
KIAA1033 transcript variant X4	XR_001748640.1:n....XR_001748640.1:n.4959C>A	C>A	Non Coding Transcript Variant
KIAA1033 transcript variant X6	XR_001748641.1:n....XR_001748641.1:n.4824C>A	C>A	Non Coding Transcript Variant
KIAA1033 transcript variant X3	XR_001748639.1:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.971	A=0.029
1000Genomes	American	Sub	694	C=0.760	A=0.240
1000Genomes	East Asian	Sub	1008	C=0.741	A=0.259
1000Genomes	Europe	Sub	1006	C=0.811	A=0.189
1000Genomes	Global	Study-wide	5008	C=0.834	A=0.166
1000Genomes	South Asian	Sub	978	C=0.820	A=0.180
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.806	A=0.194
The Genome Aggregation Database	African	Sub	8718	C=0.945	A=0.055
The Genome Aggregation Database	American	Sub	838	C=0.750	A=0.250
The Genome Aggregation Database	East Asian	Sub	1616	C=0.744	A=0.256
The Genome Aggregation Database	Europe	Sub	18442	C=0.809	A=0.190
The Genome Aggregation Database	Global	Study-wide	29916	C=0.843	A=0.156
The Genome Aggregation Database	Other	Sub	302	C=0.810	A=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.860	A=0.139
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.813	A=0.187

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs10861359	0.000767	alcohol dependence	21314694

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	105585938	105586176	E067	23947
chr12	105586182	105586226	E067	24191
chr12	105586273	105586323	E067	24282
chr12	105586473	105586597	E067	24482
chr12	105586704	105586949	E067	24713
chr12	105587013	105587080	E067	25022
chr12	105587193	105587243	E067	25202
chr12	105592716	105592913	E067	30725
chr12	105592941	105593082	E067	30950
chr12	105593110	105593593	E067	31119
chr12	105595096	105595445	E067	33105
chr12	105595713	105595845	E067	33722
chr12	105596094	105596219	E067	34103
chr12	105560606	105560767	E068	-1224
chr12	105561232	105561423	E068	-568
chr12	105561559	105561599	E068	-392
chr12	105585938	105586176	E068	23947
chr12	105586182	105586226	E068	24191
chr12	105586273	105586323	E068	24282
chr12	105586473	105586597	E068	24482
chr12	105586704	105586949	E068	24713
chr12	105587013	105587080	E068	25022
chr12	105587193	105587243	E068	25202
chr12	105587429	105587469	E068	25438
chr12	105592716	105592913	E068	30725
chr12	105592941	105593082	E068	30950
chr12	105595096	105595445	E068	33105
chr12	105595713	105595845	E068	33722
chr12	105596094	105596219	E068	34103
chr12	105598656	105599340	E068	36665
chr12	105534848	105534977	E069	-27014
chr12	105535959	105536327	E069	-25664
chr12	105585438	105585478	E069	23447
chr12	105585503	105585610	E069	23512
chr12	105585654	105585704	E069	23663
chr12	105585713	105585767	E069	23722
chr12	105585938	105586176	E069	23947
chr12	105586182	105586226	E069	24191
chr12	105586273	105586323	E069	24282
chr12	105586473	105586597	E069	24482
chr12	105586704	105586949	E069	24713
chr12	105587013	105587080	E069	25022
chr12	105587193	105587243	E069	25202
chr12	105587429	105587469	E069	25438
chr12	105595096	105595445	E069	33105
chr12	105595713	105595845	E069	33722
chr12	105596094	105596219	E069	34103
chr12	105596252	105596306	E069	34261
chr12	105535959	105536327	E071	-25664
chr12	105585938	105586176	E071	23947
chr12	105586704	105586949	E071	24713
chr12	105587013	105587080	E071	25022
chr12	105587193	105587243	E071	25202
chr12	105595096	105595445	E071	33105
chr12	105595713	105595845	E071	33722
chr12	105596094	105596219	E071	34103
chr12	105596252	105596306	E071	34261
chr12	105596414	105596474	E071	34423
chr12	105596811	105596937	E071	34820
chr12	105596967	105597017	E071	34976
chr12	105597171	105597225	E071	35180
chr12	105534514	105534569	E072	-27422
chr12	105535959	105536327	E072	-25664
chr12	105560342	105560402	E072	-1589
chr12	105560606	105560767	E072	-1224
chr12	105561232	105561423	E072	-568
chr12	105585503	105585610	E072	23512
chr12	105585654	105585704	E072	23663
chr12	105585713	105585767	E072	23722
chr12	105585938	105586176	E072	23947
chr12	105586182	105586226	E072	24191
chr12	105586273	105586323	E072	24282
chr12	105586473	105586597	E072	24482
chr12	105586704	105586949	E072	24713
chr12	105587013	105587080	E072	25022
chr12	105587193	105587243	E072	25202
chr12	105587429	105587469	E072	25438
chr12	105592541	105592610	E072	30550
chr12	105592716	105592913	E072	30725
chr12	105592941	105593082	E072	30950
chr12	105593110	105593593	E072	31119
chr12	105595096	105595445	E072	33105
chr12	105595713	105595845	E072	33722
chr12	105596094	105596219	E072	34103
chr12	105596252	105596306	E072	34261
chr12	105595096	105595445	E073	33105
chr12	105595713	105595845	E073	33722
chr12	105560342	105560402	E074	-1589
chr12	105560606	105560767	E074	-1224
chr12	105561232	105561423	E074	-568
chr12	105561559	105561599	E074	-392
chr12	105586473	105586597	E074	24482
chr12	105586704	105586949	E074	24713
chr12	105587013	105587080	E074	25022
chr12	105587193	105587243	E074	25202
chr12	105587429	105587469	E074	25438
chr12	105595096	105595445	E074	33105
chr12	105595713	105595845	E074	33722
chr12	105596094	105596219	E074	34103
chr12	105596252	105596306	E074	34261
chr12	105596414	105596474	E074	34423

rs10861359

Genomic Coordinates

Gene: KIAA1033, KIAA1033(plus strand)

Population Frequency

P-Value

eQTL of rs10861359 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs10861359 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)