Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:220495109-220495507	H1-hESC	embryonic stem cell:	n/a	chr1:220495229-220495243
2	CTCF	chr1:220495280-220495430	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr1:220495269-220495428	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr1:220495236-220495413	K562	blood:	n/a	n/a
5	CTCF	chr1:220495300-220495450	HepG2	liver:	n/a	n/a
6	RAD21	chr1:220495237-220495431	K562	blood:	n/a	n/a
7	CTCF	chr1:220495256-220495459	MCF-7	breast:	n/a	n/a
8	RAD21	chr1:220495213-220495410	Hela-S3	cervix:	n/a	chr1:220495229-220495243
9	RAD21	chr1:220495116-220495582	MCF-7	breast:	n/a	chr1:220495229-220495243
10	CTCF	chr1:220495260-220495424	K562	blood:	n/a	n/a
11	CTCF	chr1:220495360-220495510	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:220495320-220495470	GM12864	blood:	n/a	n/a
13	CTCF	chr1:220495250-220495451	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:220495258-220495435	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:220495143-220495598	K562	blood:	n/a	n/a
16	RAD21	chr1:220495136-220495553	MCF-7	breast:	n/a	chr1:220495229-220495243
17	MYC	chr1:220495340-220495410	K562	blood:	n/a	n/a
18	CTCF	chr1:220495260-220495410	K562	blood:	n/a	n/a
19	CTCF	chr1:220495169-220495527	K562	blood:	n/a	n/a
20	CTCF	chr1:220495340-220495490	Caco-2	colon:	n/a	n/a
21	CTCF	chr1:220495261-220495416	MCF-7	breast:	n/a	n/a
22	MAZ	chr1:220495198-220495470	K562	blood:	n/a	n/a
23	CTCF	chr1:220495154-220495540	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:220495214-220495489	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220469373..220470129-chr1:220494958..220495790,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232883	TF binding region

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv523114	chr1:220486349-220500958	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1006979	chr1:220488188-220501518	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv16878	chr1:220495388-220499568	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 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	chr1:220493000-220499600	Weak transcription	Fetal Heart	heart
2	chr1:220495000-220495600	Enhancers	GM12878-XiMat	blood

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