Variant report

Variant	rs9787362
Chromosome Location	chr1:56023333-56023334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10493196	0.88[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs10789002	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789003	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10789004	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10888931	0.94[ASN][1000 genomes]
rs10888933	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888934	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206618	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11206620	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11206622	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12044949	0.94[ASN][1000 genomes]
rs12069408	0.93[ASN][1000 genomes]
rs12086546	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12128185	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12128337	0.82[ASN][1000 genomes]
rs12142554	0.82[EUR][1000 genomes]
rs12401977	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1392128	0.85[TSI][hapmap]
rs1499658	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17112402	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs1875068	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4339898	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927249	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61774741	0.81[ASN][1000 genomes]
rs61776360	0.83[EUR][1000 genomes]
rs6669248	0.82[EUR][1000 genomes]
rs6675850	0.88[CEU][hapmap]
rs72667832	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72667838	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72667846	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436973	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9787362	KTI12	cis	cerebellum	SCAN
rs9787362	PRKAA2	cis	parietal	SCAN
rs9787362	TXNDC12	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56011600-56026400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:56018600-56025800	Weak transcription	Aorta	Aorta
3	chr1:56020200-56026400	Enhancers	Fetal Heart	heart
4	chr1:56021400-56024200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56021400-56024200	Weak transcription	NHDF-Ad	bronchial
6	chr1:56021400-56026600	Enhancers	Fetal Lung	lung
7	chr1:56021600-56024200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:56022000-56024200	Weak transcription	Left Ventricle	heart
9	chr1:56022000-56024400	Weak transcription	Right Ventricle	heart
10	chr1:56022000-56025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:56022800-56023600	Weak transcription	Fetal Stomach	stomach
12	chr1:56023000-56027000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:56023200-56024800	Enhancers	Right Atrium	heart

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