Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10864192	0.83[TSI][hapmap]
rs10864193	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs11120614	0.88[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11120616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12021518	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12058230	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123457	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12141500	0.88[CEU][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1418693	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1418696	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs17025255	0.86[CHB][hapmap]
rs2797239	0.88[CHB][hapmap]
rs2797245	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2797246	0.84[CHB][hapmap]
rs2820682	1.00[CHB][hapmap]
rs2820695	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4449992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs4638090	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6656265	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674308	0.85[ASN][1000 genomes]
rs6694510	0.88[CEU][hapmap];0.93[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs9662073	0.88[CEU][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549190	chr1:215903837-215928483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6656366	KCNK2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215917400-215918200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:215917400-215918400	Enhancers	HSMM	muscle
3	chr1:215917600-215918800	Enhancers	HSMMtube	muscle

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