Variant report

Variant	rs17295075
Chromosome Location	chr13:62894301-62894302
allele	C/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	RAD21	chr13:62894231-62894722	HCT-116	colon:	n/a	chr13:62894442-62894461
2	RAD21	chr13:62894234-62894682	MCF-7	breast:	n/a	chr13:62894442-62894461
3	CTCF	chr13:62894208-62894642	HCT-116	colon:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
4	RAD21	chr13:62894259-62894662	HepG2	liver:	n/a	chr13:62894442-62894461
5	CTCF	chr13:62894284-62894589	MCF-7	breast:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
6	RAD21	chr13:62894221-62894678	MCF-7	breast:	n/a	chr13:62894442-62894461
7	RAD21	chr13:62894268-62894654	IMR90	lung:	n/a	chr13:62894442-62894461
8	RAD21	chr13:62894263-62894694	H1-hESC	embryonic stem cell:	n/a	chr13:62894442-62894461
9	RAD21	chr13:62894180-62894698	ECC-1	luminal epithelium:	n/a	chr13:62894442-62894461
10	CTCF	chr13:62894292-62894557	A549	lung:	n/a	chr13:62894441-62894459 chr13:62894443-62894464
11	CTCF	chr13:62894300-62894450	NB4	blood:	n/a	n/a
12	CTCF	chr13:62894252-62894656	GM12878	blood:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
13	RAD21	chr13:62894269-62894649	GM12878	blood:	n/a	chr13:62894442-62894461
14	RAD21	chr13:62894238-62894770	A549	lung:	n/a	chr13:62894442-62894461
15	RAD21	chr13:62894197-62894718	HCT-116	colon:	n/a	chr13:62894442-62894461
16	SMC3	chr13:62894238-62894628	GM12878	blood:	n/a	chr13:62894443-62894457
17	RAD21	chr13:62894254-62894607	SK-N-SH_RA	brain:	n/a	chr13:62894442-62894461
18	CTCF	chr13:62894148-62894794	A549	lung:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
19	RAD21	chr13:62894247-62894558	GM12878	blood:	n/a	chr13:62894442-62894461
20	CTCF	chr13:62894300-62894551	HepG2	liver:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
21	RAD21	chr13:62894055-62896459	SK-N-SH	brain:	n/a	chr13:62894442-62894461
22	RAD21	chr13:62894223-62894628	SK-N-SH_RA	brain:	n/a	chr13:62894442-62894461
23	EP300	chr13:62894230-62895676	SK-N-SH	brain:	n/a	chr13:62895421-62895430 chr13:62895273-62895287 chr13:62895420-62895434
24	SMC3	chr13:62894126-62894782	SK-N-SH	brain:	n/a	chr13:62894443-62894457
25	RAD21	chr13:62894277-62894653	HepG2	liver:	n/a	chr13:62894442-62894461
26	ZNF143	chr13:62894285-62894622	GM12878	blood:	n/a	n/a
27	RAD21	chr13:62894247-62894745	ECC-1	luminal epithelium:	n/a	chr13:62894442-62894461
28	SMC3	chr13:62894272-62894654	Hela-S3	cervix:	n/a	chr13:62894443-62894457
29	CTCF	chr13:62894301-62894552	K562	blood:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
30	CTCF	chr13:62894089-62894736	SK-N-SH	brain:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
31	RFX5	chr13:62894277-62894639	Hela-S3	cervix:	n/a	chr13:62894498-62894513
32	RAD21	chr13:62894268-62894660	Hela-S3	cervix:	n/a	chr13:62894442-62894461
33	CTCF	chr13:62894300-62894450	MCF-7	breast:	n/a	n/a
34	MYC	chr13:62894223-62894629	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr13:62894291-62894600	GM12878	blood:	n/a	chr13:62894442-62894461
36	CTCF	chr13:62894262-62894755	IMR90	lung:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
37	CTCF	chr13:62894280-62894430	HCM	heart:	n/a	n/a
38	RAD21	chr13:62894270-62894662	H1-hESC	embryonic stem cell:	n/a	chr13:62894442-62894461
39	E2F4	chr13:62894271-62894619	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:62693885..62694482-chr13:62894021..62894947,2	MCF-7	breast:

Variant related genes	Relation type
LINC00459	TF binding region
LINC01074	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11148578	1.00[AFR][1000 genomes]
rs12429775	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17227743	1.00[AFR][1000 genomes]
rs17229330	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17295214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs429397	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv900257	chr13:62782367-62907090	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1038992	chr13:62827929-63369497	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541795	chr13:62827929-63369497	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1038215	chr13:62836702-63405446	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv900258	chr13:62885877-62958890	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

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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