Variant report

Variant	rs191157988
Chromosome Location	chr2:209238458-209238459
allele	A/C
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	CEBPB	chr2:209238250-209238569	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr2:209238207-209238528	Spleen_OC	spleen:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
3	CTCF	chr2:209238320-209238470	SK-N-SH_RA	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
4	CTCF	chr2:209238340-209238490	BE2_C	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
5	RAD21	chr2:209238233-209238527	A549	lung:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
6	CTCF	chr2:209238224-209238529	Gliobla	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
7	RAD21	chr2:209238184-209238501	GM12878	blood:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
8	CTCF	chr2:209238340-209238490	Hela-S3	cervix:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
9	CTCF	chr2:209238221-209238508	Lung_OC	lung:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
10	CTCF	chr2:209237955-209238815	SK-N-SH	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
11	CTCF	chr2:209238150-209238632	A549	lung:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
12	CTCF	chr2:209238340-209238490	HFF-Myc	foreskin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
13	CTCF	chr2:209238340-209238490	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
14	CTCF	chr2:209238320-209238470	HFF-Myc	foreskin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
15	CTCF	chr2:209238237-209238460	HepG2	liver:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
16	RAD21	chr2:209238171-209238601	ECC-1	luminal epithelium:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
17	CTCF	chr2:209238230-209238527	H1-hESC	embryonic stem cell:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
18	CTCF	chr2:209238222-209238536	Medullo	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
19	CTCF	chr2:209238320-209238470	HA-sp	spinal cord:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
20	CTCF	chr2:209238082-209238602	HCT-116	colon:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
21	RAD21	chr2:209238200-209238614	H1-hESC	embryonic stem cell:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
22	RAD21	chr2:209238185-209238500	HepG2	liver:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
23	SMC3	chr2:209238194-209238591	Hela-S3	cervix:	n/a	chr2:209238387-209238401
24	CTCF	chr2:209238360-209238510	GM06990	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
25	RAD21	chr2:209238058-209238625	HCT-116	colon:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
26	CTCF	chr2:209238340-209238490	HMF	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
27	CTCF	chr2:209238320-209238470	GM12867	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
28	CTCF	chr2:209238340-209238490	SK-N-SH_RA	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
29	CTCF	chr2:209238256-209238500	Pancreas_OC	pancreas:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
30	RAD21	chr2:209238047-209238760	SK-N-SH	brain:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
31	CTCF	chr2:209238221-209238564	HUVEC	blood vessel:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
32	CTCF	chr2:209238360-209238510	GM12869	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
33	CTCF	chr2:209238229-209238517	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
34	CTCF	chr2:209238171-209238603	K562	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
35	CTCF	chr2:209238320-209238470	NB4	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
36	CTCF	chr2:209238146-209238589	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
37	ARID3A	chr2:209238240-209238613	K562	blood:	n/a	n/a
38	CTCF	chr2:209238256-209238559	K562	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
39	CTCF	chr2:209238270-209238459	SK-N-SH_RA	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
40	CTCF	chr2:209238235-209238586	K562	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
41	CTCF	chr2:209238320-209238470	HAc	cerebellar:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
42	RAD21	chr2:209238194-209238571	GM12878	blood:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
43	CTCF	chr2:209238327-209238462	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
44	CTCF	chr2:209238340-209238490	GM12801	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
45	CTCF	chr2:209238340-209238490	K562	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
46	SMC3	chr2:209238030-209238614	SK-N-SH	brain:	n/a	chr2:209238387-209238401
47	RAD21	chr2:209238072-209238640	MCF-7	breast:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
48	RAD21	chr2:209238165-209238675	ECC-1	luminal epithelium:	n/a	chr2:209238388-209238395 chr2:209238386-209238405 chr2:209238391-209238403 chr2:209238390-209238399
49	CTCF	chr2:209238320-209238470	AG04450	lung:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
50	CTCF	chr2:209238261-209238495	GM10248	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408

Variant related genes	Relation type
ENSG00000265454	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv997721	chr2:209228673-209247209	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1006323	chr2:209228673-209247384	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3418149	chr2:209233519-209247345	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459072	chr2:209233567-209247320	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459073	chr2:209233591-209247266	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3459074	chr2:209233591-209247266	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv9904	chr2:209233686-209247332	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv438381	chr2:209235373-209239742	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	nsv523966	chr2:209235373-209239742	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3693454	chr2:209235373-209245352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2421431	chr2:209235373-209247221	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv10216	chr2:209237149-209247394	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1004537	chr2:209237575-209247721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2763084	chr2:209237587-209247384	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv2760598	chr2:209237587-209248803	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209233000-209240200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:209236000-209240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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