Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210386045..210390022-chr1:210405136..210408091,3	MCF-7	breast:
2	chr1:210381723..210383742-chr1:210389217..210391260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

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

rs_ID	r²[population]
rs11119444	0.99[ASN][1000 genomes]
rs12125619	0.94[CHD][hapmap]
rs12239420	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2245526	0.90[YRI][hapmap]
rs2487902	0.83[YRI][hapmap]
rs2487903	0.94[EUR][1000 genomes]
rs2487904	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2494180	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2494183	0.92[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2494184	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs2494185	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2494186	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4844981	0.89[ASN][1000 genomes]
rs624270	0.84[ASN][1000 genomes]
rs654523	0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs656312	0.83[ASN][1000 genomes]
rs677520	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs685532	0.81[JPT][hapmap]
rs71571933	0.89[EUR][1000 genomes]
rs845451	0.84[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap]
rs845464	0.82[LWK][hapmap];0.90[YRI][hapmap]
rs9430037	0.82[AFR][1000 genomes];0.91[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210387000-210389800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:210389000-210395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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