Variant report

Variant	rs535850453
Chromosome Location	chr11:71274522-71274523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:71274447-71274824	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr11:71274495-71274938	GM12878	blood:	n/a	n/a
3	STAT3	chr11:71274489-71274724	MCF10A-Er-Src	breast:	n/a	n/a
4	TBL1XR1	chr11:71274512-71274789	GM12878	blood:	n/a	n/a
5	KAP1	chr11:71274450-71274967	U2OS	brain:	n/a	n/a
6	SMC3	chr11:71274111-71275038	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr11:71274397-71274955	HCT-116	colon:	n/a	n/a
8	RAD21	chr11:71274428-71274929	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr11:71274504-71274881	GM12878	blood:	n/a	n/a
10	SMC3	chr11:71274502-71274918	HepG2	liver:	n/a	n/a
11	RAD21	chr11:71274406-71274980	HepG2	liver:	n/a	n/a
12	SETDB1	chr11:71274470-71274954	U2OS	brain:	n/a	n/a
13	RUNX3	chr11:71274363-71274933	GM12878	blood:	n/a	n/a
14	CTCF	chr11:71274447-71274905	K562	blood:	n/a	n/a
15	RAD21	chr11:71274474-71274922	ECC-1	luminal epithelium:	n/a	n/a
16	ELK1	chr11:71274497-71274844	GM12878	blood:	n/a	n/a
17	CTCF	chr11:71274520-71274670	HVMF	connective:	n/a	n/a
18	RAD21	chr11:71274426-71275044	HCT-116	colon:	n/a	n/a
19	EP300	chr11:71274414-71274795	GM12878	blood:	n/a	n/a
20	MAZ	chr11:71274469-71274800	HepG2	liver:	n/a	n/a
21	RAD21	chr11:71274471-71274977	A549	lung:	n/a	n/a
22	RAD21	chr11:71274486-71274926	GM12878	blood:	n/a	n/a
23	RAD21	chr11:71274517-71274895	HepG2	liver:	n/a	n/a
24	CTCF	chr11:71274503-71274925	A549	lung:	n/a	n/a
25	RUNX3	chr11:71274350-71274911	GM12878	blood:	n/a	n/a
26	CTCF	chr11:71274019-71275227	A549	lung:	n/a	n/a
27	CTCF	chr11:71274300-71274550	HFF-Myc	foreskin:	n/a	n/a
28	RAD21	chr11:71274467-71274898	HepG2	liver:	n/a	n/a
29	RAD21	chr11:71274368-71274984	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:71274472-71274958	HepG2	liver:	n/a	n/a
31	FOXM1	chr11:71274453-71274949	GM12878	blood:	n/a	n/a
32	ZNF143	chr11:71274467-71274925	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr11:71274517-71274852	HepG2	liver:	n/a	n/a
34	BRCA1	chr11:71274467-71274725	HepG2	liver:	n/a	n/a
35	CTCF	chr11:71274498-71274870	K562	blood:	n/a	n/a
36	RFX5	chr11:71274514-71274635	HepG2	liver:	n/a	n/a
37	CTCF	chr11:71274491-71274922	MCF-7	breast:	n/a	n/a
38	FOS	chr11:71274479-71274771	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr11:71274440-71274590	NHDF-neo	bronchial:	n/a	n/a
40	SPI1	chr11:71274425-71274611	K562	blood:	n/a	n/a
41	SMC3	chr11:71274476-71274902	GM12878	blood:	n/a	n/a
42	RAD21	chr11:71274490-71274929	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr11:71274332-71275046	MCF-7	breast:	n/a	n/a
44	RAD21	chr11:71274492-71274829	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr11:71274377-71275076	SK-N-SH	brain:	n/a	n/a
46	MAFK	chr11:71274498-71274837	HepG2	liver:	n/a	n/a
47	RAD21	chr11:71274399-71275030	HCT-116	colon:	n/a	n/a
48	RAD21	chr11:71274312-71275088	SK-N-SH	brain:	n/a	n/a
49	ATF1	chr11:71274374-71274763	K562	blood:	n/a	n/a
50	CTCF	chr11:71274488-71274874	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
2	chr11:71272055..71274887-chr11:71280546..71282110,2	K562	blood:
3	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:
4	chr11:71156732..71161621-chr11:71272936..71276184,4	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP5-10	TF binding region
ENSG00000254682	Chromatin interaction
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv983039	chr11:71268641-71277624	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3328619	chr11:71272162-71274726	Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3441221	chr11:71272504-71276802	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3421476	chr11:71273104-71276402	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv11587	chr11:71274225-71275220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71274200-71276400	Bivalent Enhancer	HepG2	liver
2	chr11:71274400-71274800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71274400-71274800	Bivalent Enhancer	Osteobl	bone
4	chr11:71274400-71275000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr11:71274400-71275000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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