Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:53089900-53090254	HepG2	liver:	n/a	chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090077-53090088 chr20:53090077-53090090 chr20:53090079-53090090 chr20:53090079-53090090 chr20:53090077-53090090 chr20:53090079-53090088 chr20:53090077-53090090
2	CEBPB	chr20:53089938-53090238	IMR90	lung:	n/a	chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090077-53090088 chr20:53090077-53090090 chr20:53090079-53090090 chr20:53090079-53090090 chr20:53090077-53090090 chr20:53090079-53090088 chr20:53090077-53090090
3	CEBPB	chr20:53089941-53090234	A549	lung:	n/a	chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090079-53090088 chr20:53090077-53090088 chr20:53090077-53090090 chr20:53090079-53090090 chr20:53090079-53090090 chr20:53090077-53090090 chr20:53090079-53090088 chr20:53090077-53090090

No.	Distal block	Cell Line	Cell type
1	chr20:53073108..53074852-chr20:53089210..53091091,3	MCF-7	breast:
2	chr20:53068334..53071090-chr20:53089202..53090759,2	MCF-7	breast:
3	chr20:53066844..53069030-chr20:53089773..53091908,2	MCF-7	breast:
4	chr20:52823193..52825695-chr20:53088951..53090894,2	MCF-7	breast:

Variant related genes	Relation type
DOK5	TF binding region
ENSG00000101132	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11907464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13040866	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13044898	0.82[EUR][1000 genomes]
rs1330017	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2870330	0.89[AMR][1000 genomes]
rs34310366	0.82[EUR][1000 genomes]
rs34433522	0.81[EUR][1000 genomes]
rs34502501	0.82[EUR][1000 genomes]
rs34616206	0.83[EUR][1000 genomes]
rs34683517	0.82[EUR][1000 genomes]
rs35276316	0.82[EUR][1000 genomes]
rs57582150	0.86[AMR][1000 genomes]
rs6014026	0.87[EUR][1000 genomes]
rs6014027	0.87[EUR][1000 genomes]
rs6014032	0.82[EUR][1000 genomes]
rs6023265	0.86[EUR][1000 genomes]
rs6023270	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023272	0.82[EUR][1000 genomes]
rs6023273	0.83[EUR][1000 genomes]
rs6023274	0.82[EUR][1000 genomes]
rs6023275	0.82[EUR][1000 genomes]
rs6023276	0.82[EUR][1000 genomes]
rs6091890	0.93[EUR][1000 genomes]
rs6091891	0.82[EUR][1000 genomes]
rs6098003	0.86[EUR][1000 genomes]
rs6098005	0.98[EUR][1000 genomes]
rs6098006	0.82[EUR][1000 genomes]
rs6098007	0.82[EUR][1000 genomes]
rs6098008	0.82[EUR][1000 genomes]
rs6098009	0.82[EUR][1000 genomes]
rs6098011	0.82[EUR][1000 genomes]
rs67687183	0.82[EUR][1000 genomes]
rs922398	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53084800-53091800	Weak transcription	Aorta	Aorta
2	chr20:53088000-53091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:53088000-53091600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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