Variant report

Variant	rs8068453
Chromosome Location	chr17:45852354-45852355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10445375	0.87[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10445376	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11079786	0.82[JPT][hapmap]
rs11079789	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079790	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079791	0.87[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079792	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11651842	0.92[ASN][1000 genomes]
rs11655336	0.87[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658895	0.81[AFR][1000 genomes]
rs12325760	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450729	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450733	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12451815	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12453955	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12721470	0.88[CHD][hapmap]
rs12950390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16947078	0.96[LWK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs17244587	0.88[CHD][hapmap]
rs17700008	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17773010	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074190	0.82[JPT][hapmap]
rs28589850	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239165	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239166	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793646	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793647	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794063	0.82[JPT][hapmap];0.89[YRI][hapmap]
rs4794067	0.82[JPT][hapmap]
rs4794110	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745341	1.00[ASN][1000 genomes]
rs56137679	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56363619	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387656	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57171311	0.81[AFR][1000 genomes]
rs58391889	0.92[ASN][1000 genomes]
rs59513807	0.92[ASN][1000 genomes]
rs6503855	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66471233	0.92[ASN][1000 genomes]
rs67441169	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831644	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071192	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078052	0.83[EUR][1000 genomes];0.97[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8068453	ETNK2	trans	cerebellum	SCAN
rs8068453	TBKBP1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45850800-45855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:45851800-45852800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45852000-45853000	Enhancers	NHDF-Ad	bronchial
4	chr17:45852000-45853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:45852200-45853400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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