Variant report

Variant	rs17229330
Chromosome Location	chr13:62894631-62894632
allele	A/G
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	RAD21	chr13:62894221-62894678	MCF-7	breast:	n/a	chr13:62894442-62894461
6	RAD21	chr13:62894268-62894654	IMR90	lung:	n/a	chr13:62894442-62894461
7	RAD21	chr13:62894263-62894694	H1-hESC	embryonic stem cell:	n/a	chr13:62894442-62894461
8	CTCF	chr13:62894332-62894641	A549	lung:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
9	RAD21	chr13:62894180-62894698	ECC-1	luminal epithelium:	n/a	chr13:62894442-62894461
10	CTCF	chr13:62894252-62894656	GM12878	blood:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
11	RAD21	chr13:62894269-62894649	GM12878	blood:	n/a	chr13:62894442-62894461
12	RAD21	chr13:62894238-62894770	A549	lung:	n/a	chr13:62894442-62894461
13	RAD21	chr13:62894197-62894718	HCT-116	colon:	n/a	chr13:62894442-62894461
14	ARID3A	chr13:62894405-62894638	HepG2	liver:	n/a	n/a
15	RAD21	chr13:62894345-62894707	A549	lung:	n/a	chr13:62894442-62894461
16	CTCF	chr13:62894148-62894794	A549	lung:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
17	RAD21	chr13:62894055-62896459	SK-N-SH	brain:	n/a	chr13:62894442-62894461
18	EP300	chr13:62894230-62895676	SK-N-SH	brain:	n/a	chr13:62895421-62895430 chr13:62895273-62895287 chr13:62895420-62895434
19	SMC3	chr13:62894126-62894782	SK-N-SH	brain:	n/a	chr13:62894443-62894457
20	RAD21	chr13:62894277-62894653	HepG2	liver:	n/a	chr13:62894442-62894461
21	RAD21	chr13:62894247-62894745	ECC-1	luminal epithelium:	n/a	chr13:62894442-62894461
22	SMC3	chr13:62894272-62894654	Hela-S3	cervix:	n/a	chr13:62894443-62894457
23	CTCF	chr13:62894089-62894736	SK-N-SH	brain:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
24	RFX5	chr13:62894277-62894639	Hela-S3	cervix:	n/a	chr13:62894498-62894513
25	RAD21	chr13:62894268-62894660	Hela-S3	cervix:	n/a	chr13:62894442-62894461
26	CTCF	chr13:62894262-62894755	IMR90	lung:	n/a	chr13:62894443-62894464 chr13:62894441-62894459
27	RAD21	chr13:62894270-62894662	H1-hESC	embryonic stem cell:	n/a	chr13:62894442-62894461
28	STAT3	chr13:62894317-62894670	MCF10A-Er-Src	breast:	n/a	chr13:62894424-62894435

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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

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]
rs17295075	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17295214	1.00[CEU][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62894600-62895600	Enhancers	Fetal Heart	heart

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