Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:23586513-23587004	HepG2	liver:	n/a	n/a
2	CTCF	chr20:23586740-23586890	HMEC	breast:	n/a	n/a
3	RAD21	chr20:23586641-23586988	HepG2	liver:	n/a	n/a
4	RAD21	chr20:23586590-23587664	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
5	CTCF	chr20:23586680-23586930	HepG2	liver:	n/a	n/a
6	CTCF	chr20:23586768-23586877	MCF-7	breast:	n/a	n/a
7	CTCF	chr20:23586720-23586870	HepG2	liver:	n/a	n/a
8	CTCF	chr20:23586777-23586859	NHEK	skin:	n/a	n/a
9	RAD21	chr20:23586588-23587661	H1-hESC	embryonic stem cell:	n/a	chr20:23587214-23587227 chr20:23587213-23587225 chr20:23587371-23587390
10	CTCF	chr20:23586760-23586910	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23330189..23333651-chr20:23586751..23589419,5	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1158165	0.83[AFR][1000 genomes]
rs1158166	0.88[LWK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs1966182	1.00[CHB][hapmap]
rs1983713	0.83[AFR][1000 genomes]
rs1983714	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs2145237	1.00[AMR][1000 genomes]
rs2208282	1.00[AMR][1000 genomes]
rs2208290	0.83[AFR][1000 genomes]
rs2424568	0.84[AFR][1000 genomes]
rs2424578	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs2424579	1.00[ASW][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs2983616	1.00[AMR][1000 genomes]
rs2983617	1.00[AMR][1000 genomes]
rs2983618	0.81[ASW][hapmap];1.00[AMR][1000 genomes]
rs2983625	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004134	1.00[AMR][1000 genomes]
rs3004138	0.83[LWK][hapmap];0.83[AFR][1000 genomes]
rs3004140	0.84[AFR][1000 genomes]
rs3004143	0.84[AFR][1000 genomes]
rs911127	1.00[AFR][1000 genomes];1.00[AMR][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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23583600-23587600	Weak transcription	Spleen	Spleen
3	chr20:23584000-23587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:23584200-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:23585000-23588800	Enhancers	Fetal Thymus	thymus
8	chr20:23586000-23588600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:23586200-23587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23586400-23586800	Bivalent Enhancer	HepG2	liver
11	chr20:23586600-23590000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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