Variant report

Variant	rs527628742
Chromosome Location	chr4:92034669-92034670
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	chr4:92034216-92034718	ECC-1	luminal epithelium:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
2	RAD21	chr4:92034182-92034810	A549	lung:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
3	RAD21	chr4:92034242-92034764	H1-hESC	embryonic stem cell:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
4	RAD21	chr4:92034232-92034733	SK-N-SH_RA	brain:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
5	RAD21	chr4:92034212-92034772	MCF-7	breast:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
6	CTCF	chr4:92034252-92034688	GM12878	blood:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
7	CTCF	chr4:92034093-92034880	SK-N-SH	brain:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
8	SMC3	chr4:92034182-92034910	SK-N-SH	brain:	n/a	chr4:92034457-92034471
9	RAD21	chr4:92034302-92034830	HCT-116	colon:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
10	CTCF	chr4:92034263-92034687	IMR90	lung:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
11	SMC3	chr4:92034262-92034768	Hela-S3	cervix:	n/a	chr4:92034457-92034471
12	WRNIP1	chr4:92034360-92034727	GM12878	blood:	n/a	n/a
13	CTCF	chr4:92034383-92034669	HCT-116	colon:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
14	RAD21	chr4:92034209-92034670	HepG2	liver:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
15	CTCF	chr4:92034264-92034693	HCT-116	colon:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
16	RAD21	chr4:92034294-92034670	IMR90	lung:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
17	CTCF	chr4:92034077-92034842	A549	lung:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472
18	RAD21	chr4:92034149-92034894	MCF-7	breast:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
19	RAD21	chr4:92034304-92034679	SK-N-SH_RA	brain:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
20	RAD21	chr4:92034295-92034724	HepG2	liver:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
21	RAD21	chr4:92034280-92034702	GM12878	blood:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
22	SMC3	chr4:92034288-92034700	GM12878	blood:	n/a	chr4:92034457-92034471
23	ZKSCAN1	chr4:92034290-92034744	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr4:92033855-92034909	SK-N-SH	brain:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
25	RAD21	chr4:92034263-92034760	Hela-S3	cervix:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
26	RAD21	chr4:92034044-92034802	H1-hESC	embryonic stem cell:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
27	RAD21	chr4:92034179-92034707	ECC-1	luminal epithelium:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
28	RAD21	chr4:92034208-92034807	H1-hESC	embryonic stem cell:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
29	RAD21	chr4:92034157-92034846	HCT-116	colon:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
30	CTCF	chr4:92034540-92034690	NHLF	lung:	n/a	n/a
31	RAD21	chr4:92034192-92034726	A549	lung:	n/a	chr4:92034458-92034465 chr4:92034456-92034475
32	CTCF	chr4:92034300-92034702	MCF-7	breast:	n/a	chr4:92034457-92034478 chr4:92034455-92034473 chr4:92034456-92034472

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248984	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv879561	chr4:92005403-92061748	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3448147	chr4:92011533-92275731	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879562	chr4:92023320-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv879563	chr4:92028168-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv879564	chr4:92033255-92184080	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92034400-92035400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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