Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:53478006-53478267	HepG2	liver:	n/a	chr20:53478140-53478151

No.	Distal block	Cell Line	Cell type
1	chr20:53474059..53475926-chr20:53477510..53479588,2	MCF-7	breast:
2	chr20:53471099..53474032-chr20:53476723..53479996,4	MCF-7	breast:
3	chr20:53476868..53479575-chr20:53491320..53493490,2	MCF-7	breast:

Variant related genes	Relation type
RNU4ATAC7P	TF binding region

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

rs_ID	r²[population]
rs1398113	0.83[EUR][1000 genomes]
rs1512065	0.97[EUR][1000 genomes]
rs17267366	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs2025128	0.87[EUR][1000 genomes]
rs2025129	0.88[EUR][1000 genomes]
rs2048504	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs2063519	0.88[EUR][1000 genomes]
rs366808	0.89[CEU][hapmap]
rs431022	0.84[CEU][hapmap]
rs4811538	0.96[EUR][1000 genomes]
rs4811542	0.80[EUR][1000 genomes]
rs6014185	0.99[EUR][1000 genomes]
rs6023624	0.92[EUR][1000 genomes]
rs6023625	0.93[EUR][1000 genomes]
rs6023640	0.88[EUR][1000 genomes]
rs6023645	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6023649	0.86[EUR][1000 genomes]
rs6023655	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs6023669	0.83[EUR][1000 genomes]
rs6023673	0.82[EUR][1000 genomes]
rs6064117	0.86[EUR][1000 genomes]
rs6064129	0.81[EUR][1000 genomes]
rs6069016	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6123426	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs6127310	0.84[EUR][1000 genomes]
rs912510	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs912511	0.83[EUR][1000 genomes]
rs912512	0.90[CEU][hapmap];0.84[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53477400-53478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:53478000-53478200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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