Variant report

Variant	rs185690123
Chromosome Location	chr8:114384715-114384716
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	CTCF	chr8:114384700-114384850	NHDF-neo	bronchial:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
2	CTCF	chr8:114384700-114384850	Caco-2	colon:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
3	CTCF	chr8:114384640-114384790	HFF-Myc	foreskin:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
4	CTCF	chr8:114384680-114384830	GM12874	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
5	CTCF	chr8:114384559-114384836	IMR90	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
6	CTCF	chr8:114384640-114384790	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
7	CTCF	chr8:114384680-114384830	GM06990	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
8	CTCF	chr8:114384700-114384850	HMEC	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
9	CTCF	chr8:114384631-114384878	SK-N-SH_RA	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
10	CTCF	chr8:114384680-114384830	GM12866	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
11	CTCF	chr8:114384680-114384830	NB4	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
12	CTCF	chr8:114384700-114384850	K562	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
13	SMC3	chr8:114384613-114384918	Hela-S3	cervix:	n/a	chr8:114384756-114384770
14	CTCF	chr8:114384660-114384810	GM12872	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
15	CTCF	chr8:114384680-114384830	HEK293	kidney:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
16	CTCF	chr8:114384706-114384837	GM10266	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
17	CTCF	chr8:114384660-114384810	HepG2	liver:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
18	CTCF	chr8:114384640-114384790	HCT-116	colon:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
19	SMC3	chr8:114384635-114384811	HepG2	liver:	n/a	chr8:114384756-114384770
20	CTCF	chr8:114384680-114384830	HMF	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
21	CTCF	chr8:114384636-114384813	HepG2	liver:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
22	CTCF	chr8:114384641-114384875	GM12878	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
23	CTCF	chr8:114384700-114384850	HPAF	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
24	CTCF	chr8:114384660-114384810	GM12874	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
25	CTCF	chr8:114384680-114384830	HBMEC	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
26	CTCF	chr8:114384629-114384893	HUVEC	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
27	CTCF	chr8:114384509-114385034	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
28	CTCF	chr8:114384680-114384830	HCPEpiC	choroid plexus:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
29	RAD21	chr8:114384562-114384944	ECC-1	luminal epithelium:	n/a	chr8:114384755-114384774
30	CTCF	chr8:114384651-114384866	Gliobla	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
31	CTCF	chr8:114384700-114384850	HA-sp	spinal cord:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
32	CTCF	chr8:114384640-114384790	HPAF	blood vessel:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
33	CTCF	chr8:114384620-114384770	GM06990	blood:	n/a	n/a
34	CTCF	chr8:114384664-114384843	GM13977	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
35	CTCF	chr8:114384659-114384866	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
36	CTCF	chr8:114384645-114384879	Hela-S3	cervix:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
37	CTCF	chr8:114384662-114384846	HepG2	liver:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
38	CTCF	chr8:114384700-114384850	HRPEpiC	eye:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
39	CTCF	chr8:114384660-114384810	WERI-Rb-1	eye:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
40	CTCF	chr8:114384645-114384884	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
41	CTCF	chr8:114384552-114384937	GM12878	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
42	CTCF	chr8:114384664-114384848	Medullo	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
43	RAD21	chr8:114384585-114384841	HepG2	liver:	n/a	chr8:114384755-114384774
44	CTCF	chr8:114384700-114384850	GM12875	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
45	CTCF	chr8:114384661-114384818	SK-N-SH_RA	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
46	CTCF	chr8:114384700-114384850	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
47	CTCF	chr8:114384680-114384830	GM12870	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
48	RAD21	chr8:114384631-114384929	SK-N-SH_RA	brain:	n/a	chr8:114384755-114384774
49	CTCF	chr8:114384640-114384790	A549	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
50	CTCF	chr8:114384700-114384850	HCM	heart:	n/a	chr8:114384756-114384777 chr8:114384754-114384772

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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