Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr4:56251436-56251845	Hela-S3	cervix:	n/a	n/a
2	GATA1	chr4:56251108-56252037	PBDE	blood:	n/a	chr4:56251408-56251418 chr4:56251410-56251420 chr4:56251410-56251417 chr4:56251405-56251421 chr4:56251410-56251417 chr4:56251410-56251417 chr4:56251407-56251419 chr4:56251646-56251653
3	TEAD4	chr4:56251223-56251855	K562	blood:	n/a	n/a
4	MAZ	chr4:56251204-56251905	IMR90	lung:	n/a	n/a
5	RFX5	chr4:56251390-56251867	Hela-S3	cervix:	n/a	chr4:56251572-56251586 chr4:56251574-56251583
6	KAP1	chr4:56251629-56252118	K562	blood:	n/a	n/a
7	GATA1	chr4:56250710-56254022	K562	blood:	n/a	chr4:56251408-56251418 chr4:56251410-56251420 chr4:56251410-56251417 chr4:56251405-56251421 chr4:56251410-56251417 chr4:56251410-56251417 chr4:56251407-56251419 chr4:56251646-56251653
8	CTCF	chr4:56251425-56251838	K562	blood:	n/a	chr4:56251553-56251566 chr4:56251551-56251564
9	BHLHE40	chr4:56251529-56251872	K562	blood:	n/a	n/a
10	IRF1	chr4:56251392-56251956	K562	blood:	n/a	chr4:56251669-56251681 chr4:56251615-56251624

No.	Distal block	Cell Line	Cell type
1	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:
2	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
3	chr4:56249230..56252021-chr4:56252928..56255914,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLOCK-1	chr4:56251712-56251833	ENSG00000249700.4

rSNPs within LD-proxies of this variant (count:12)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:56248000-56254000	Weak transcription	Spleen	Spleen
4	chr4:56248000-56259400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:56248200-56261400	Weak transcription	Aorta	Aorta
6	chr4:56249200-56261200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:56251000-56252000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:56251200-56252600	Enhancers	Brain Angular Gyrus	brain
9	chr4:56251200-56252600	Enhancers	NH-A	brain
10	chr4:56251200-56253600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:56251400-56252200	Enhancers	Fetal Intestine Small	intestine
12	chr4:56251400-56252600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:56251400-56252600	Enhancers	Pancreas	Pancrea
14	chr4:56251400-56252800	Enhancers	Hela-S3	cervix
15	chr4:56251400-56254200	Enhancers	HepG2	liver
16	chr4:56251400-56254400	Flanking Active TSS	K562	blood
17	chr4:56251600-56252000	Enhancers	Osteobl	bone
18	chr4:56251600-56252400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:56251600-56252600	Enhancers	Brain Hippocampus Middle	brain
20	chr4:56251600-56252600	Enhancers	Brain Substantia Nigra	brain
21	chr4:56251600-56252600	Enhancers	NHLF	lung
22	chr4:56251800-56253600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:56251800-56255000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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