Variant report

Variant	rs553635367
Chromosome Location	chr5:75370364-75370365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:75370326-75370718	GM12878	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
2	RAD21	chr5:75370362-75370728	SK-N-SH_RA	brain:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
3	CTCF	chr5:75370296-75370727	H1-hESC	embryonic stem cell:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
4	CTCF	chr5:75370350-75370582	A549	lung:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
5	RAD21	chr5:75370347-75370708	GM12878	blood:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
6	RAD21	chr5:75370312-75370734	SK-N-SH_RA	brain:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
7	CTCF	chr5:75370294-75370817	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
8	CTCF	chr5:75370331-75370646	K562	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
9	RAD21	chr5:75370324-75370636	GM12878	blood:	n/a	chr5:75370511-75370530
10	RAD21	chr5:75370242-75370758	HCT-116	colon:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
11	ZNF143	chr5:75370354-75370684	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXM1	chr5:75370249-75370727	GM12878	blood:	n/a	n/a
13	CTCF	chr5:75370360-75370510	HVMF	connective:	n/a	n/a
14	CTCF	chr5:75370340-75370614	K562	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
15	CTCF	chr5:75370330-75370681	K562	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
16	RAD21	chr5:75370270-75370755	MCF-7	breast:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
17	RAD21	chr5:75370280-75370721	GM12878	blood:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
18	CTCF	chr5:75370339-75370700	K562	blood:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
19	CTCF	chr5:75370362-75370659	Medullo	brain:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
20	CTCF	chr5:75370360-75370510	HRPEpiC	eye:	n/a	n/a
21	RAD21	chr5:75370330-75370723	H1-hESC	embryonic stem cell:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
22	SMC3	chr5:75370312-75370744	GM12878	blood:	n/a	chr5:75370512-75370519
23	RAD21	chr5:75370285-75370781	H1-hESC	embryonic stem cell:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
24	ZNF143	chr5:75370329-75370691	GM12878	blood:	n/a	n/a
25	NR2F2	chr5:75370348-75370621	MCF-7	breast:	n/a	n/a
26	RAD21	chr5:75370163-75370896	SK-N-SH	brain:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
27	RAD21	chr5:75370290-75370762	A549	lung:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
28	RAD21	chr5:75370356-75370712	HepG2	liver:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
29	CTCF	chr5:75370360-75370510	HFF-Myc	foreskin:	n/a	n/a
30	RAD21	chr5:75370300-75370744	MCF-7	breast:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
31	FOXM1	chr5:75370260-75370857	GM12878	blood:	n/a	n/a
32	RAD21	chr5:75370324-75370816	H1-hESC	embryonic stem cell:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
33	RAD21	chr5:75370288-75370685	ECC-1	luminal epithelium:	n/a	chr5:75370511-75370530
34	SMC3	chr5:75370206-75370952	SK-N-SH	brain:	n/a	chr5:75370512-75370519
35	CTCF	chr5:75370360-75370510	NHLF	lung:	n/a	n/a
36	CTCF	chr5:75370264-75370666	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
37	YY1	chr5:75370339-75370595	GM12878	blood:	n/a	n/a
38	CTCF	chr5:75370360-75370510	HMEC	breast:	n/a	n/a
39	CTCF	chr5:75370184-75370816	SK-N-SH	brain:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
40	CTCF	chr5:75370336-75370674	H1-hESC	embryonic stem cell:	n/a	chr5:75370513-75370522 chr5:75370512-75370533

No.	Distal block	Cell Line	Cell type
1	chr5:75370241..75371009-chr5:75551554..75552357,4	K562	blood:
2	chr5:75370056..75370744-chr5:75551849..75552754,4	MCF-7	breast:
3	chr5:75370258..75370917-chr5:75470691..75471438,2	MCF-7	breast:
4	chr5:75370186..75371274-chr5:75551816..75552790,4	MCF-7	breast:
5	chr5:75370002..75370997-chr5:75470399..75471572,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249777	TF binding region
ENSG00000251342	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv4883	chr5:75360926-75373963	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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