Variant report

Variant	esv3392501
Chromosome Location	chr2:54682473-54685646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:427)
CpG islands
(count:672)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54682853-54683244	HepG2	liver:	n/a	n/a
2	BACH1	chr2:54684594-54684782	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr2:54683964-54684145	K562	blood:	n/a	n/a
4	CEBPD	chr2:54683063-54683574	HepG2	liver:	n/a	n/a
5	CEBPD	chr2:54682962-54683723	HepG2	liver:	n/a	n/a
6	CEBPD	chr2:54684733-54685172	HepG2	liver:	n/a	n/a
7	CHD1	chr2:54684601-54685201	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr2:54683216-54683297	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr2:54684923-54685079	HepG2	liver:	n/a	n/a
10	CHD2	chr2:54682407-54682567	HepG2	liver:	n/a	n/a
11	CHD2	chr2:54684712-54684928	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:54682957-54683837	HepG2	liver:	n/a	chr2:54683732-54683742 chr2:54683071-54683081
13	CREB1	chr2:54682979-54684118	A549	lung:	n/a	n/a
14	CREB1	chr2:54683022-54683535	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr2:54682379-54685140	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:54683498-54683553	ProgFib	skin:	n/a	chr2:54683520-54683530
17	CTCF	chr2:54683180-54683330	SAEC	small airway:	n/a	n/a
18	CTCF	chr2:54683899-54683997	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:54683780-54683930	GM12869	blood:	n/a	chr2:54683799-54683812
20	CTCF	chr2:54682880-54683030	AG04449	skin:	n/a	n/a
21	CTCF	chr2:54682960-54683110	HVMF	connective:	n/a	n/a
22	CTCF	chr2:54683780-54683930	GM12864	blood:	n/a	chr2:54683799-54683812
23	CTCF	chr2:54683020-54683170	HCFaa	heart:	n/a	n/a
24	CTCF	chr2:54684917-54685139	A549	lung:	n/a	n/a
25	CTCF	chr2:54682660-54682810	A549	lung:	n/a	n/a
26	CTCF	chr2:54683840-54683990	GM12871	blood:	n/a	n/a
27	CTCF	chr2:54683459-54683517	A549	lung:	n/a	n/a
28	CTCF	chr2:54683400-54683550	HUVEC	blood vessel:	n/a	chr2:54683520-54683530
29	CTCF	chr2:54685040-54685190	HepG2	liver:	n/a	n/a
30	CTCF	chr2:54685023-54685076	ProgFib	skin:	n/a	n/a
31	CTCF	chr2:54682940-54683090	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr2:54682900-54683050	NHLF	lung:	n/a	n/a
33	CTCF	chr2:54683460-54683610	GM12874	blood:	n/a	chr2:54683520-54683530 chr2:54683546-54683559
34	CTCF	chr2:54684960-54685110	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr2:54684973-54685034	Medullo	brain:	n/a	n/a
36	CTCF	chr2:54682998-54683066	ProgFib	skin:	n/a	n/a
37	CTCF	chr2:54682900-54683050	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr2:54685000-54685150	AG04450	lung:	n/a	n/a
39	CTCF	chr2:54682400-54682550	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:54683680-54683830	AG04449	skin:	n/a	chr2:54683799-54683812
41	CTCF	chr2:54682900-54683050	BJ	skin:	n/a	n/a
42	CTCF	chr2:54684940-54685090	AG04449	skin:	n/a	n/a
43	CTCF	chr2:54683360-54683510	AG04449	skin:	n/a	n/a
44	CTCF	chr2:54685008-54685086	Fibrobl	skin:	n/a	n/a
45	CTCF	chr2:54683360-54683510	BJ	skin:	n/a	n/a
46	CTCF	chr2:54684920-54685070	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr2:54682820-54682970	A549	lung:	n/a	n/a
48	CTCF	chr2:54683060-54683210	A549	lung:	n/a	n/a
49	CTCF	chr2:54684880-54685030	AG09319	gingival:	n/a	n/a
50	CTCF	chr2:54683680-54683830	GM12874	blood:	n/a	chr2:54683799-54683812

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54683048-54683098	Jurkat	blood:	n/a
2	chr2:54683048-54683098	Jurkat	blood:	n/a
3	chr2:54683322-54683372	ovcar-3	ovarian:	n/a
4	chr2:54683322-54683372	SK-N-MC	brain:	n/a
5	chr2:54682859-54682909	HRE	kidney:	n/a
6	chr2:54683707-54683757	HCF	heart:	n/a
7	chr2:54682530-54682580	SK-N-MC	brain:	n/a
8	chr2:54683322-54683372	AG09319	gingival:	n/a
9	chr2:54685010-54685060	H1-hESC	embryonic stem cell:	embryo
10	chr2:54683048-54683098	PFSK-1	brain:	n/a
11	chr2:54683048-54683098	NB4	blood:	n/a
12	chr2:54683048-54683098	AG04450	lung:	fetal
13	chr2:54683322-54683372	HCPEpiC	choroid plexus:	n/a
14	chr2:54683502-54683552	MCF10A-Er-Src	breast:	n/a
15	chr2:54683404-54683454	NB4	blood:	n/a
16	chr2:54682970-54683020	HCT-116	colon:	n/a
17	chr2:54685010-54685060	U87	brain:	n/a
18	chr2:54682530-54682580	HCPEpiC	choroid plexus:	n/a
19	chr2:54683404-54683454	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:54682859-54682909	HAEpiC	amniotic membrane:	n/a
21	chr2:54682530-54682580	BE2_C	brain:	n/a
22	chr2:54685010-54685060	NB4	blood:	n/a
23	chr2:54683048-54683098	HMEC	breast:	n/a
24	chr2:54683502-54683552	NB4	blood:	n/a
25	chr2:54684134-54684184	MCF10A-Er-Src	breast:	n/a
26	chr2:54682859-54682909	PFSK-1	brain:	n/a
27	chr2:54682970-54683020	HEEpiC	esophagus:	n/a
28	chr2:54683404-54683454	HCPEpiC	choroid plexus:	n/a
29	chr2:54683707-54683757	HEEpiC	esophagus:	n/a
30	chr2:54685010-54685060	SK-N-MC	brain:	n/a
31	chr2:54683404-54683454	GM12892	blood:	n/a
32	chr2:54682530-54682580	ProgFib	skin:	n/a
33	chr2:54683048-54683098	HNPCEpiC	eye:	n/a
34	chr2:54683707-54683757	SK-N-SH	brain:	n/a
35	chr2:54683502-54683552	HNPCEpiC	eye:	n/a
36	chr2:54682970-54683020	HEK293	kidney:	embryo
37	chr2:54682859-54682909	MCF-7	breast:	n/a
38	chr2:54683707-54683757	GM06990	blood:	n/a
39	chr2:54682530-54682580	IMR90	lung:	fetal
40	chr2:54682859-54682909	Hepatocyte	liver:	n/a
41	chr2:54682530-54682580	NH-A	brain:	n/a
42	chr2:54684134-54684184	NB4	blood:	n/a
43	chr2:54683322-54683372	HCM	heart:	n/a
44	chr2:54682758-54682808	MCF10A-Er-Src	breast:	n/a
45	chr2:54685010-54685060	HIPEpiC	eye:	n/a
46	chr2:54682970-54683020	Hepatocyte	liver:	n/a
47	chr2:54685010-54685060	HCF	heart:	n/a
48	chr2:54684134-54684184	SK-N-SH	brain:	n/a
49	chr2:54682859-54682909	HCPEpiC	choroid plexus:	n/a
50	chr2:54684134-54684184	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
2	chr2:54683448..54684022-chr7:127291404..127292021,2	HCT-116	colon:
3	chr2:54663282..54665058-chr2:54681463..54683178,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTBN1	TF binding region
SPTBN1	CpG island
ENSG00000170634	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536737520	chr2:54682500-54682501	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535388209	chr2:54682533-54682534	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147398913	chr2:54682550-54682551	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560425719	chr2:54682630-54682631	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574086827	chr2:54682632-54682633	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542605882	chr2:54682634-54682635	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371951242	chr2:54682646-54682647	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559401892	chr2:54682649-54682650	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530680613	chr2:54682673-54682674	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139707367	chr2:54682731-54682732	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78694117	chr2:54682734-54682735	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370819104	chr2:54682737-54682738	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546665571	chr2:54682758-54682759	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566398973	chr2:54682773-54682774	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs72804673	chr2:54682787-54682788	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186866692	chr2:54682796-54682797	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs72804674	chr2:54682941-54682942	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538519469	chr2:54682982-54682983	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143638833	chr2:54683013-54683014	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571863626	chr2:54683032-54683033	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534094690	chr2:54683038-54683039	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554344092	chr2:54683070-54683071	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574019069	chr2:54683071-54683072	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543120587	chr2:54683115-54683116	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111669101	chr2:54683130-54683131	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576054972	chr2:54683150-54683151	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374738687	chr2:54683169-54683170	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144262608	chr2:54683182-54683183	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533265412	chr2:54683190-54683191	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116753141	chr2:54683203-54683204	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191278714	chr2:54683214-54683215	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528967017	chr2:54683230-54683231	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549127868	chr2:54683239-54683240	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4426561	chr2:54683241-54683242	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531377897	chr2:54683258-54683259	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551408408	chr2:54683347-54683348	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369456780	chr2:54683366-54683367	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571924675	chr2:54683418-54683419	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534526853	chr2:54683443-54683444	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554037660	chr2:54683479-54683480	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567881291	chr2:54683492-54683493	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536325366	chr2:54683500-54683501	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553893917	chr2:54683516-54683517	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556285074	chr2:54683706-54683707	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4305309	chr2:54683711-54683712	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544961353	chr2:54683754-54683755	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558550655	chr2:54683834-54683835	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577825674	chr2:54683942-54683943	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540557002	chr2:54683978-54683979	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560069090	chr2:54683998-54683999	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54681600-54682800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr2:54681800-54682600	Flanking Active TSS	Brain Anterior Caudate	brain
3	chr2:54681800-54682600	Flanking Active TSS	HSMMtube	muscle
4	chr2:54681800-54683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:54682000-54682600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr2:54682000-54682800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:54682000-54683000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:54682000-54685000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr2:54682000-54685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:54682000-54685400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:54682000-54685600	Active TSS	Brain Substantia Nigra	brain
12	chr2:54682000-54686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:54682200-54682600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:54682200-54682600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:54682200-54682600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr2:54682200-54682600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr2:54682200-54682600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:54682200-54682600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:54682200-54682600	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr2:54682200-54682600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr2:54682200-54682600	Flanking Active TSS	Fetal Brain Female	brain
22	chr2:54682200-54682600	Flanking Active TSS	Fetal Lung	lung
23	chr2:54682200-54682600	Active TSS	Pancreas	Pancrea
24	chr2:54682200-54682600	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:54682200-54682600	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr2:54682200-54682800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:54682200-54682800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:54682200-54682800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:54682200-54682800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:54682200-54682800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:54682200-54682800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:54682200-54682800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
33	chr2:54682200-54682800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr2:54682200-54682800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:54682200-54682800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:54682200-54682800	Flanking Active TSS	Fetal Brain Male	brain
37	chr2:54682200-54682800	Flanking Active TSS	Fetal Stomach	stomach
38	chr2:54682200-54682800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:54682200-54682800	Bivalent/Poised TSS	Thymus	Thymus
40	chr2:54682200-54682800	Flanking Active TSS	NH-A	brain
41	chr2:54682200-54682800	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr2:54682200-54683000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:54682200-54683000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr2:54682200-54683000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:54682200-54683000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:54682200-54683000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr2:54682200-54683000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:54682200-54683000	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr2:54682200-54683000	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr2:54682200-54683000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum

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