Variant report

Variant	rs186944471
Chromosome Location	chr8:114384655-114384656
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	CTCF	chr8:114384640-114384790	HFF-Myc	foreskin:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
2	CTCF	chr8:114384559-114384836	IMR90	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
3	CTCF	chr8:114384640-114384790	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
4	CTCF	chr8:114384631-114384878	SK-N-SH_RA	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
5	SMC3	chr8:114384613-114384918	Hela-S3	cervix:	n/a	chr8:114384756-114384770
6	CTCF	chr8:114384640-114384790	HCT-116	colon:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
7	SMC3	chr8:114384635-114384811	HepG2	liver:	n/a	chr8:114384756-114384770
8	CTCF	chr8:114384636-114384813	HepG2	liver:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
9	CTCF	chr8:114384641-114384875	GM12878	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
10	CTCF	chr8:114384629-114384893	HUVEC	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
11	CTCF	chr8:114384509-114385034	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
12	RAD21	chr8:114384562-114384944	ECC-1	luminal epithelium:	n/a	chr8:114384755-114384774
13	CTCF	chr8:114384651-114384866	Gliobla	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
14	CTCF	chr8:114384640-114384790	HPAF	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
15	CTCF	chr8:114384620-114384770	GM06990	blood:	n/a	n/a
16	CTCF	chr8:114384645-114384879	Hela-S3	cervix:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
17	CTCF	chr8:114384645-114384884	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
18	CTCF	chr8:114384552-114384937	GM12878	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
19	RAD21	chr8:114384585-114384841	HepG2	liver:	n/a	chr8:114384755-114384774
20	RAD21	chr8:114384631-114384929	SK-N-SH_RA	brain:	n/a	chr8:114384755-114384774
21	CTCF	chr8:114384640-114384790	A549	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
22	STAT3	chr8:114384587-114384676	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr8:114384642-114384860	H1-hESC	embryonic stem cell:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
24	RAD21	chr8:114384635-114384845	GM12878	blood:	n/a	chr8:114384755-114384774
25	SMC3	chr8:114384549-114384881	SK-N-SH	brain:	n/a	chr8:114384756-114384770
26	CTCF	chr8:114384600-114384750	GM12865	blood:	n/a	n/a
27	CTCF	chr8:114384600-114384750	NHDF-neo	bronchial:	n/a	n/a
28	RAD21	chr8:114384615-114384824	H1-hESC	embryonic stem cell:	n/a	chr8:114384755-114384774
29	CTCF	chr8:114384640-114384790	AG04450	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
30	CTCF	chr8:114384640-114384790	GM12872	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
31	CTCF	chr8:114384640-114384790	GM12871	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
32	ZNF143	chr8:114384619-114384911	GM12878	blood:	n/a	n/a
33	CTCF	chr8:114384600-114384750	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr8:114384533-114384986	SK-N-SH	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
35	SMC3	chr8:114384586-114384915	GM12878	blood:	n/a	chr8:114384756-114384770
36	RAD21	chr8:114384592-114384942	Hela-S3	cervix:	n/a	chr8:114384755-114384774
37	CTCF	chr8:114384620-114384770	SAEC	small airway:	n/a	n/a
38	CTCF	chr8:114384521-114384934	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
39	RAD21	chr8:114384626-114384822	HepG2	liver:	n/a	chr8:114384755-114384774
40	RAD21	chr8:114384477-114385019	MCF-7	breast:	n/a	chr8:114384755-114384774
41	CTCF	chr8:114384640-114384790	HRE	kidney:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
42	RAD21	chr8:114384644-114384905	SK-N-SH_RA	brain:	n/a	chr8:114384755-114384774
43	CTCF	chr8:114384600-114384750	GM12869	blood:	n/a	n/a
44	RAD21	chr8:114384478-114384986	SK-N-SH	brain:	n/a	chr8:114384755-114384774
45	RAD21	chr8:114384605-114384926	H1-hESC	embryonic stem cell:	n/a	chr8:114384755-114384774
46	RAD21	chr8:114384589-114384972	H1-hESC	embryonic stem cell:	n/a	chr8:114384755-114384774

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114384438..114385053-chr8:114992865..114993457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227514	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	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1019362	chr8:114377031-114419106	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1031488	chr8:114382671-114419106	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 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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