Variant report

Variant	rs542731744
Chromosome Location	chr8:58404230-58404231
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	SMC3	chr8:58403711-58404407	SK-N-SH	brain:	n/a	chr8:58404061-58404075
2	RAD21	chr8:58403833-58404275	ECC-1	luminal epithelium:	n/a	n/a
3	RAD21	chr8:58403806-58404273	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:58403653-58404308	SK-N-SH	brain:	n/a	chr8:58404054-58404075
5	RAD21	chr8:58403935-58404286	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr8:58403859-58404240	H1-hESC	embryonic stem cell:	n/a	chr8:58404054-58404075
7	CTCF	chr8:58403899-58404246	T-47D	breast:	n/a	chr8:58404054-58404075
8	RAD21	chr8:58403845-58404284	SK-N-SH_RA	brain:	n/a	n/a
9	RAD21	chr8:58403815-58404285	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr8:58403881-58404269	HepG2	liver:	n/a	n/a
11	RAD21	chr8:58403832-58404268	MCF-7	breast:	n/a	n/a
12	RAD21	chr8:58403766-58404348	A549	lung:	n/a	n/a
13	CTCF	chr8:58403855-58404254	GM12878	blood:	n/a	chr8:58404054-58404075
14	RAD21	chr8:58403863-58404249	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr8:58403827-58404327	MCF-7	breast:	n/a	chr8:58404054-58404075
16	CTCF	chr8:58403808-58404394	A549	lung:	n/a	chr8:58404054-58404075
17	CTCF	chr8:58403814-58404328	MCF-7	breast:	n/a	chr8:58404054-58404075
18	RAD21	chr8:58403842-58404320	HCT-116	colon:	n/a	n/a
19	SMC3	chr8:58403868-58404233	Hela-S3	cervix:	n/a	chr8:58404061-58404075
20	RAD21	chr8:58403841-58404254	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr8:58403475-58404400	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr8:58403785-58404279	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:58403844-58404279	HCT-116	colon:	n/a	chr8:58404054-58404075
24	RAD21	chr8:58403866-58404232	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:58332707..58333926-chr8:58403565..58404649,11	MCF-7	breast:
2	chr8:58334906..58335645-chr8:58403623..58404511,2	MCF-7	breast:
3	chr8:58332821..58333771-chr8:58403706..58404764,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253821	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1029189	chr8:58336604-58409288	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv831322	chr8:58389416-58551242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1015600	chr8:58400271-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58403800-58404400	Enhancers	Liver	Liver
2	chr8:58404000-58408000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:58404200-58405200	Enhancers	Pancreatic Islets	Pancreatic Islet

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