Variant report

Variant	rs9436973
Chromosome Location	chr1:56021061-56021062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10493196	0.80[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs10789002	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789003	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789004	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888931	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10888933	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10888934	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11206618	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11206620	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11206622	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11206629	0.85[JPT][hapmap]
rs12044949	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12069408	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12086546	0.83[ASN][1000 genomes]
rs12128185	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12401977	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs1392129	0.80[JPT][hapmap]
rs1499658	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17112402	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1875068	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs356103	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4339898	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4927249	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6675850	0.80[CEU][hapmap]
rs72667832	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72667838	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs904602	0.84[JPT][hapmap]
rs9787362	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
rs9436973	C1orf168	cis	parietal	SCAN
rs9436973	KTI12	cis	cerebellum	SCAN
rs9436973	PRKAA2	cis	parietal	SCAN

Chromatin state (count:6 , 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	chr1:56021000-56021400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56021000-56021400	Enhancers	NHDF-Ad	bronchial
6	chr1:56021000-56021600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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