Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53450548..53452502-chr20:53453207..53455561,2	MCF-7	breast:
2	chr20:53452684..53454463-chr7:75919286..75921090,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1398113	0.81[EUR][1000 genomes]
rs2025128	0.90[EUR][1000 genomes]
rs2025129	0.91[EUR][1000 genomes]
rs2048504	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2063519	0.91[EUR][1000 genomes]
rs283277	0.81[EUR][1000 genomes]
rs366808	0.83[CEU][hapmap]
rs431022	0.84[CEU][hapmap]
rs4811538	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4811542	0.82[EUR][1000 genomes]
rs6014185	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014211	0.80[EUR][1000 genomes]
rs6023624	0.95[EUR][1000 genomes]
rs6023625	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6023640	0.91[EUR][1000 genomes]
rs6023645	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023649	0.86[EUR][1000 genomes]
rs6023655	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6023669	0.81[EUR][1000 genomes]
rs6023673	0.81[EUR][1000 genomes]
rs6064117	0.89[EUR][1000 genomes]
rs6069016	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs6123426	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6127310	0.82[EUR][1000 genomes]
rs912507	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs912510	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs912511	0.81[EUR][1000 genomes]
rs912512	0.84[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
2	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 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	chr20:53453200-53453600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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