Variant report

Variant	rs588516
Chromosome Location	chr1:216400818-216400819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11120739	0.86[CEU][hapmap];0.88[CHB][hapmap]
rs11120740	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1115436	0.82[CHB][hapmap]
rs1159143	0.81[TSI][hapmap]
rs1324330	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17026130	1.00[ASW][hapmap]
rs17026208	1.00[ASW][hapmap];0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap]
rs17026219	0.86[CEU][hapmap];0.88[CHB][hapmap]
rs1805049	0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs2034960	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs2274117	0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap]
rs2669057	1.00[ASW][hapmap];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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301736	0.82[CHB][hapmap]
rs301737	0.82[CHB][hapmap]
rs301742	0.82[CHB][hapmap]
rs301744	0.82[CHB][hapmap]
rs301745	0.82[CHB][hapmap]
rs301750	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs301752	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs301759	0.81[CHB][hapmap]
rs301760	0.82[CHB][hapmap]
rs301761	1.00[CEU][hapmap]
rs369731	0.82[CHB][hapmap]
rs3754064	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3767692	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs378340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs385463	1.00[CEU][hapmap]
rs386654	1.00[CEU][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap]
rs401269	0.87[CEU][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs404925	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs407590	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs415508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs430652	0.82[CHB][hapmap]
rs439940	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs592642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600535	1.00[ASW][hapmap];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]
rs62906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs636457	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs643416	0.80[CHB][hapmap]
rs646094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs659875	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677648	0.82[CHB][hapmap]
rs680410	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[GIH][hapmap]
rs696719	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs700015	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs773498	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9660965	0.87[CEU][hapmap];0.88[CHB][hapmap]
rs9661602	0.87[CEU][hapmap];0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216395200-216401000	Weak transcription	Left Ventricle	heart

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