Variant report

Variant	esv3375438
Chromosome Location	chr11:17034401-17037549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:513)
CpG islands
(count:795)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17034308-17034849	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:17036440-17037210	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:17036145-17036156	HepG2	liver:	n/a	n/a
4	ATF3	chr11:17034359-17034857	A549	lung:	n/a	n/a
5	BACH1	chr11:17036133-17036192	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:17034566-17035293	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:17035550-17035605	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr11:17034009-17034854	A549	lung:	n/a	n/a
9	BCL3	chr11:17036311-17036869	A549	lung:	n/a	chr11:17036590-17036599
10	BCL3	chr11:17034242-17034926	A549	lung:	n/a	n/a
11	BCL3	chr11:17036715-17037219	A549	lung:	n/a	n/a
12	BHLHE40	chr11:17036486-17037136	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:17034231-17034780	HepG2	liver:	n/a	chr11:17034449-17034460
14	CEBPB	chr11:17034071-17034889	MCF-7	breast:	n/a	chr11:17034449-17034460
15	CEBPB	chr11:17034340-17034519	Hela-S3	cervix:	n/a	chr11:17034449-17034460
16	CEBPB	chr11:17034245-17034871	A549	lung:	n/a	chr11:17034449-17034460
17	CEBPB	chr11:17034246-17034919	MCF-7	breast:	n/a	chr11:17034449-17034460
18	CEBPB	chr11:17034449-17034468	K562	blood:	n/a	chr11:17034449-17034460
19	CEBPB	chr11:17034064-17035027	A549	lung:	n/a	chr11:17034449-17034460
20	CEBPB	chr11:17034274-17034688	IMR90	lung:	n/a	chr11:17034449-17034460
21	CEBPB	chr11:17034193-17034816	A549	lung:	n/a	chr11:17034449-17034460
22	CEBPD	chr11:17034926-17035668	HepG2	liver:	n/a	n/a
23	CEBPD	chr11:17034466-17034824	HepG2	liver:	n/a	n/a
24	CEBPD	chr11:17036007-17036401	HepG2	liver:	n/a	n/a
25	CHD1	chr11:17035596-17035599	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:17036167-17036308	HepG2	liver:	n/a	n/a
27	CHD2	chr11:17036526-17036750	HepG2	liver:	n/a	n/a
28	CHD2	chr11:17034552-17035054	HepG2	liver:	n/a	n/a
29	CHD2	chr11:17035272-17035452	HepG2	liver:	n/a	chr11:17035441-17035451
30	CREB1	chr11:17035875-17036268	A549	lung:	n/a	n/a
31	CREB1	chr11:17036550-17036832	A549	lung:	n/a	n/a
32	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
33	CREB1	chr11:17034380-17034735	A549	lung:	n/a	n/a
34	CTBP2	chr11:17034437-17035493	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:17036660-17036810	A549	lung:	n/a	chr11:17036768-17036786
36	CTCF	chr11:17036668-17036836	GM13976	blood:	n/a	chr11:17036768-17036786
37	CTCF	chr11:17036680-17036830	AG04449	skin:	n/a	chr11:17036768-17036786
38	CTCF	chr11:17036810-17036813	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr11:17036690-17036845	SK-N-SH_RA	brain:	n/a	chr11:17036768-17036786
40	CTCF	chr11:17036700-17036850	HMF	breast:	n/a	chr11:17036768-17036786
41	CTCF	chr11:17035514-17035604	GM19240	blood:	n/a	n/a
42	CTCF	chr11:17036626-17036891	HepG2	liver:	n/a	chr11:17036768-17036786
43	CTCF	chr11:17036680-17036830	GM12870	blood:	n/a	chr11:17036768-17036786
44	CTCF	chr11:17036677-17036875	HepG2	liver:	n/a	chr11:17036768-17036786
45	CTCF	chr11:17036700-17036850	HEEpiC	esophagus:	n/a	chr11:17036768-17036786
46	CTCF	chr11:17036680-17036830	GM12866	blood:	n/a	chr11:17036768-17036786
47	CTCF	chr11:17036645-17036878	MCF-7	breast:	n/a	chr11:17036768-17036786
48	CTCF	chr11:17036699-17036847	Hela-S3	cervix:	n/a	chr11:17036768-17036786
49	CTCF	chr11:17036684-17036855	Pancreas_OC	pancreas:	n/a	chr11:17036768-17036786
50	CTCF	chr11:17036693-17036899	GM20000	blood:	n/a	chr11:17036768-17036786

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17036403-17036453	HCF	heart:	n/a
2	chr11:17034484-17034534	HCM	heart:	n/a
3	chr11:17036403-17036453	HCF	heart:	n/a
4	chr11:17034484-17034534	HCM	heart:	n/a
5	chr11:17034644-17034694	NHDF-neo	bronchial:	n/a
6	chr11:17034844-17034894	HepG2	liver:	n/a
7	chr11:17036042-17036092	HEK293	kidney:	embryo
8	chr11:17034484-17034534	HUVEC	blood vessel:	n/a
9	chr11:17035876-17035926	PANC-1	pancreas:	n/a
10	chr11:17036142-17036192	SK-N-SH	brain:	n/a
11	chr11:17034644-17034694	HRE	kidney:	n/a
12	chr11:17036142-17036192	PANC-1	pancreas:	n/a
13	chr11:17035779-17035829	NB4	blood:	n/a
14	chr11:17035779-17035829	HL-60	blood:	n/a
15	chr11:17036581-17036631	SAEC	small airway:	n/a
16	chr11:17036137-17036187	HEEpiC	esophagus:	n/a
17	chr11:17036581-17036631	SK-N-SH	brain:	n/a
18	chr11:17036137-17036187	CMK	blood:	n/a
19	chr11:17036137-17036187	RPTEC	kidney:	n/a
20	chr11:17035779-17035829	MCF10A-Er-Src	breast:	n/a
21	chr11:17036337-17036387	NHDF-neo	bronchial:	n/a
22	chr11:17036137-17036187	AG09309	skin:	n/a
23	chr11:17034644-17034694	ECC-1	luminal epithelium:	n/a
24	chr11:17035779-17035829	AG10803	skin:	n/a
25	chr11:17035779-17035829	HCF	heart:	n/a
26	chr11:17036142-17036192	GM12892	blood:	n/a
27	chr11:17034644-17034694	Hela-S3	cervix:	n/a
28	chr11:17036403-17036453	U87	brain:	n/a
29	chr11:17036137-17036187	Hepatocyte	liver:	n/a
30	chr11:17034644-17034694	AG09319	gingival:	n/a
31	chr11:17036137-17036187	GM19239	blood:	n/a
32	chr11:17036644-17036694	GM06990	blood:	n/a
33	chr11:17036137-17036187	HCM	heart:	n/a
34	chr11:17034484-17034534	SK-N-SH_RA	brain:	n/a
35	chr11:17034644-17034694	HL-60	blood:	n/a
36	chr11:17036042-17036092	HCPEpiC	choroid plexus:	n/a
37	chr11:17036581-17036631	HAEpiC	amniotic membrane:	n/a
38	chr11:17036142-17036192	PrEC	prostate:	n/a
39	chr11:17036337-17036387	U87	brain:	n/a
40	chr11:17036337-17036387	NB4	blood:	n/a
41	chr11:17036337-17036387	HL-60	blood:	n/a
42	chr11:17036042-17036092	SAEC	small airway:	n/a
43	chr11:17036142-17036192	NT2-D1	testis:	n/a
44	chr11:17036581-17036631	ECC-1	luminal epithelium:	n/a
45	chr11:17036403-17036453	Jurkat	blood:	n/a
46	chr11:17035411-17035461	NHBE	bronchial:	n/a
47	chr11:17036403-17036453	MCF-7	breast:	n/a
48	chr11:17036403-17036453	AG04449	skin:	fetal
49	chr11:17036137-17036187	HRPEpiC	eye:	n/a
50	chr11:17034644-17034694	ProgFib	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:
2	chr11:16994632..16996478-chr11:17034698..17036230,2	MCF-7	breast:
3	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:
4	chr11:17031613..17034437-chr11:17043596..17045738,2	MCF-7	breast:
5	chr11:17037168..17039319-chr11:17083342..17085313,2	MCF-7	breast:
6	chr11:16967271..16967926-chr11:17036420..17037064,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUCB2-7	chr11:17035545-17035914	NONHSAT018197

No data

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000266493	TF binding region
OR7E14P	TF binding region
PLEKHA7	CpG island
ENSG00000266493	CpG island
OR7E14P	CpG island
ENSG00000244398	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000251928	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369256693	chr11:17034409-17034410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs550839865	chr11:17034419-17034420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs561408585	chr11:17034443-17034444	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs183727422	chr11:17034521-17034522	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs548923612	chr11:17034539-17034540	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34794528	chr11:17034556-17034557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573879033	chr11:17034560-17034561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs6486336	chr11:17034637-17034638	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535088048	chr11:17034642-17034643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs6486337	chr11:17034644-17034645	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148754687	chr11:17034682-17034683	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7950504	chr11:17034684-17034685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80221593	chr11:17034710-17034711	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs6486338	chr11:17034728-17034729	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371214990	chr11:17034767-17034768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs73431225	chr11:17034773-17034774	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572874576	chr11:17034792-17034793	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs540303651	chr11:17034795-17034796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs552013950	chr11:17034808-17034809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs112759639	chr11:17034826-17034827	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs564970100	chr11:17034841-17034842	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs6486339	chr11:17034875-17034876	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7939949	chr11:17034881-17034882	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562449785	chr11:17034911-17034912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs529901343	chr11:17034919-17034920	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs548985168	chr11:17034920-17034921	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs142272707	chr11:17034937-17034938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs151249645	chr11:17034968-17034969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs368124315	chr11:17034983-17034984	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs113946404	chr11:17034985-17034986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs374978836	chr11:17035013-17035014	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs571793774	chr11:17035031-17035032	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs539225194	chr11:17035032-17035033	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs377260589	chr11:17035033-17035034	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs551154436	chr11:17035041-17035042	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs538079717	chr11:17035049-17035050	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs6486340	chr11:17035064-17035065	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6486341	chr11:17035086-17035087	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6486342	chr11:17035119-17035120	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10832722	chr11:17035164-17035165	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145679835	chr11:17035182-17035183	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs576821139	chr11:17035191-17035192	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs544014279	chr11:17035205-17035206	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs562312074	chr11:17035223-17035224	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs6486343	chr11:17035251-17035252	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188052897	chr11:17035273-17035274	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs561165326	chr11:17035274-17035275	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs564472214	chr11:17035291-17035292	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs6486344	chr11:17035314-17035315	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367822780	chr11:17035316-17035317	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17016400-17034600	Weak transcription	Aorta	Aorta
2	chr11:17019400-17034800	Weak transcription	Lung	lung
3	chr11:17019800-17034600	Weak transcription	Right Ventricle	heart
4	chr11:17021200-17034600	Weak transcription	Right Atrium	heart
5	chr11:17022000-17034600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17030800-17034600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:17033000-17034600	Weak transcription	Gastric	stomach
8	chr11:17033200-17034600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:17033400-17034600	Flanking Active TSS	A549	lung
10	chr11:17033600-17034600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17033600-17034800	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr11:17033600-17034800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:17033800-17034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:17033800-17034800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:17033800-17034800	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr11:17034000-17034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:17034000-17034600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:17034000-17034600	Enhancers	Fetal Heart	heart
19	chr11:17034000-17034600	Active TSS	Fetal Intestine Small	intestine
20	chr11:17034000-17034600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:17034000-17034600	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:17034000-17034600	Flanking Active TSS	HepG2	liver
23	chr11:17034000-17035000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:17034200-17034600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:17034200-17034600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17034200-17034600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr11:17034200-17034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:17034200-17034600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:17034200-17034600	Flanking Active TSS	Liver	Liver
32	chr11:17034200-17034600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:17034200-17034600	Enhancers	Placenta	Placenta
34	chr11:17034200-17034600	Enhancers	HSMM	muscle
35	chr11:17034200-17034600	Enhancers	HUVEC	blood vessel
36	chr11:17034200-17034600	Enhancers	NH-A	brain
37	chr11:17034200-17034800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17034200-17034800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr11:17034200-17034800	Bivalent Enhancer	NHLF	lung
40	chr11:17034200-17035000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr11:17034200-17035000	Active TSS	Colonic Mucosa	Colon
42	chr11:17034200-17035000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:17034200-17035400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:17034200-17035400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:17034200-17035400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
47	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
49	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
50	chr11:17034400-17034600	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links