Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr20:22562266-22564509	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr20:22562229-22562848	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:22562119-22562703	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:22562268-22562714	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:22560241-22562821	HepG2	liver:	n/a	n/a
6	SUZ12	chr20:22562190-22564964	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:22562301-22562758	PANC-1	pancreas:	n/a	n/a
8	CTBP2	chr20:22562196-22566241	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr20:22561711-22562740	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22560956..22563425-chr7:98474991..98476982,2	MCF-7	breast:
2	chr20:22554317..22556878-chr20:22561065..22563587,2	MCF-7	breast:

Variant related genes	Relation type
LINC00261	TF binding region
ENSG00000196367	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1055080	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11087388	0.82[EUR][1000 genomes]
rs1203895	0.81[EUR][1000 genomes]
rs1203896	0.84[AMR][1000 genomes]
rs1203898	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1203899	0.85[EUR][1000 genomes]
rs1203905	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1203907	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203910	0.90[EUR][1000 genomes]
rs1209523	0.82[EUR][1000 genomes]
rs1337918	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1337919	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16984154	0.81[ASN][1000 genomes]
rs1800847	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2277764	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6036152	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6036157	0.83[ASN][1000 genomes]
rs6036158	0.82[ASN][1000 genomes]
rs6048184	0.80[EUR][1000 genomes]
rs6048197	0.82[EUR][1000 genomes]
rs6048199	0.82[EUR][1000 genomes]
rs6048200	0.82[EUR][1000 genomes]
rs6048202	0.84[EUR][1000 genomes]
rs6048205	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048206	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048209	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048216	0.82[ASN][1000 genomes]
rs6113722	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72470563	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7266093	0.83[ASN][1000 genomes]
rs73300990	0.82[EUR][1000 genomes]
rs73300993	0.82[EUR][1000 genomes]
rs8123991	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs910959	0.83[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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22560600-22563400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr20:22561400-22563400	Transcr. at gene 5' and 3'	A549	lung
4	chr20:22561600-22566400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:22561800-22563000	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr20:22562200-22562400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:22562200-22562400	Active TSS	Gastric	stomach
8	chr20:22562200-22562400	Active TSS	Lung	lung
9	chr20:22562200-22562600	Active TSS	Stomach Mucosa	stomach
10	chr20:22562200-22562800	Flanking Active TSS	Liver	Liver
11	chr20:22562200-22562800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
12	chr20:22562200-22563400	Transcr. at gene 5' and 3'	HepG2	liver
13	chr20:22562200-22563800	Transcr. at gene 5' and 3'	Pancreas	Pancrea

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