Variant report

Variant	esv3407657
Chromosome Location	chr2:54682273-54685021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:429)
CpG islands
(count:733)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:429 , 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	chr2:54684733-54685172	HepG2	liver:	n/a	n/a
6	CEBPD	chr2:54682962-54683723	HepG2	liver:	n/a	n/a
7	CEBPD	chr2:54682136-54682461	HepG2	liver:	n/a	n/a
8	CHD1	chr2:54683216-54683297	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr2:54682304-54682437	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr2:54684601-54685201	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:54682407-54682567	HepG2	liver:	n/a	n/a
12	CHD2	chr2:54684712-54684928	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr2:54682957-54683837	HepG2	liver:	n/a	chr2:54683732-54683742 chr2:54683071-54683081
14	CHD2	chr2:54684923-54685079	HepG2	liver:	n/a	n/a
15	CREB1	chr2:54682979-54684118	A549	lung:	n/a	n/a
16	CREB1	chr2:54683022-54683535	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr2:54682379-54685140	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:54684930-54685058	Gliobla	brain:	n/a	n/a
19	CTCF	chr2:54684979-54685037	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:54683840-54683990	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr2:54684880-54685030	GM12874	blood:	n/a	n/a
22	CTCF	chr2:54683480-54683630	HMEC	breast:	n/a	chr2:54683520-54683530 chr2:54683546-54683559
23	CTCF	chr2:54685000-54685150	A549	lung:	n/a	n/a
24	CTCF	chr2:54684980-54685130	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr2:54682940-54683090	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr2:54682900-54683050	BJ	skin:	n/a	n/a
27	CTCF	chr2:54683020-54683170	AG10803	skin:	n/a	n/a
28	CTCF	chr2:54683360-54683510	AG04449	skin:	n/a	n/a
29	CTCF	chr2:54683680-54683830	GM12874	blood:	n/a	chr2:54683799-54683812
30	CTCF	chr2:54682980-54683130	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr2:54682660-54682810	A549	lung:	n/a	n/a
32	CTCF	chr2:54682998-54683066	ProgFib	skin:	n/a	n/a
33	CTCF	chr2:54682820-54682970	A549	lung:	n/a	n/a
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	chr2:54683660-54683810	GM12872	blood:	n/a	n/a
37	CTCF	chr2:54684880-54685030	HepG2	liver:	n/a	n/a
38	CTCF	chr2:54682740-54682890	HRE	kidney:	n/a	n/a
39	CTCF	chr2:54682880-54683030	AG04449	skin:	n/a	n/a
40	CTCF	chr2:54682180-54682330	HRE	kidney:	n/a	n/a
41	CTCF	chr2:54682260-54682410	HPF	lung:	n/a	n/a
42	CTCF	chr2:54685008-54685086	Fibrobl	skin:	n/a	n/a
43	CTCF	chr2:54683060-54683210	A549	lung:	n/a	n/a
44	CTCF	chr2:54685000-54685150	AG04450	lung:	n/a	n/a
45	CTCF	chr2:54683840-54683990	GM12871	blood:	n/a	n/a
46	CTCF	chr2:54682920-54683070	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr2:54684940-54685090	AG04449	skin:	n/a	n/a
48	CTCF	chr2:54683600-54683870	GM12870	blood:	n/a	chr2:54683799-54683812
49	CTCF	chr2:54683740-54683890	GM12868	blood:	n/a	chr2:54683799-54683812
50	CTCF	chr2:54682920-54683070	HCM	heart:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54683404-54683454	GM19239	blood:	n/a
2	chr2:54683404-54683454	GM19239	blood:	n/a
3	chr2:54683502-54683552	T-47D	breast:	n/a
4	chr2:54682387-54682437	HNPCEpiC	eye:	n/a
5	chr2:54683048-54683098	NB4	blood:	n/a
6	chr2:54682970-54683020	GM12878	blood:	n/a
7	chr2:54685010-54685060	AG09319	gingival:	n/a
8	chr2:54682530-54682580	AG09319	gingival:	n/a
9	chr2:54682758-54682808	HNPCEpiC	eye:	n/a
10	chr2:54682758-54682808	CMK	blood:	n/a
11	chr2:54683707-54683757	MCF-7	breast:	n/a
12	chr2:54683707-54683757	IMR90	lung:	fetal
13	chr2:54683048-54683098	T-47D	breast:	n/a
14	chr2:54683322-54683372	HEK293	kidney:	embryo
15	chr2:54683048-54683098	AG10803	skin:	n/a
16	chr2:54683502-54683552	GM12892	blood:	n/a
17	chr2:54683707-54683757	GM12891	blood:	n/a
18	chr2:54682530-54682580	MCF-7	breast:	n/a
19	chr2:54683322-54683372	HMEC	breast:	n/a
20	chr2:54685010-54685060	BJ	skin:	n/a
21	chr2:54682530-54682580	GM12891	blood:	n/a
22	chr2:54682859-54682909	HIPEpiC	eye:	n/a
23	chr2:54683707-54683757	HIPEpiC	eye:	n/a
24	chr2:54682970-54683020	ovcar-3	ovarian:	n/a
25	chr2:54683707-54683757	SK-N-SH_RA	brain:	n/a
26	chr2:54683707-54683757	GM12878	blood:	n/a
27	chr2:54683707-54683757	PANC-1	pancreas:	n/a
28	chr2:54684134-54684184	H1-hESC	embryonic stem cell:	embryo
29	chr2:54682758-54682808	HRE	kidney:	n/a
30	chr2:54682758-54682808	SAEC	small airway:	n/a
31	chr2:54683707-54683757	HRCEpiC	kidney:	n/a
32	chr2:54685010-54685060	SK-N-SH	brain:	n/a
33	chr2:54683322-54683372	AG10803	skin:	n/a
34	chr2:54682758-54682808	U87	brain:	n/a
35	chr2:54683322-54683372	U87	brain:	n/a
36	chr2:54682530-54682580	PANC-1	pancreas:	n/a
37	chr2:54682970-54683020	Jurkat	blood:	n/a
38	chr2:54682387-54682437	AG09309	skin:	n/a
39	chr2:54682387-54682437	IMR90	lung:	fetal
40	chr2:54683707-54683757	LNCaP	prostate:	n/a
41	chr2:54683322-54683372	A549	lung:	n/a
42	chr2:54683322-54683372	HRCEpiC	kidney:	n/a
43	chr2:54682387-54682437	SK-N-SH	brain:	n/a
44	chr2:54683707-54683757	AG04449	skin:	fetal
45	chr2:54683404-54683454	ProgFib	skin:	n/a
46	chr2:54683322-54683372	HCF	heart:	n/a
47	chr2:54683404-54683454	K562	blood:	n/a
48	chr2:54682530-54682580	AoSMC	blood vessel:	n/a
49	chr2:54683048-54683098	SK-N-MC	brain:	n/a
50	chr2:54682859-54682909	HUVEC	blood vessel:	n/a

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

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

No data

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

Extended variants
information (count: 95 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371115271	chr2:54682290-54682291	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535143840	chr2:54682306-54682307	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555346392	chr2:54682325-54682326	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73932829	chr2:54682329-54682330	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538555197	chr2:54682334-54682335	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375684855	chr2:54682352-54682353	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112888674	chr2:54682403-54682404	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
8	rs578232413	chr2:54682415-54682416	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54681600-54682800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr2:54681800-54682400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:54681800-54682600	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr2:54681800-54682600	Flanking Active TSS	HSMMtube	muscle
5	chr2:54681800-54683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54682000-54682400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:54682000-54682400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:54682000-54682400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:54682000-54682400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:54682000-54682400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:54682000-54682600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr2:54682000-54682800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:54682000-54683000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr2:54682000-54685000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:54682000-54685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr2:54682000-54685400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:54682000-54685600	Active TSS	Brain Substantia Nigra	brain
18	chr2:54682000-54686200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:54682200-54682400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:54682200-54682400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:54682200-54682400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:54682200-54682400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:54682200-54682400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:54682200-54682400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:54682200-54682400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:54682200-54682400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:54682200-54682400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:54682200-54682400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:54682200-54682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:54682200-54682400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr2:54682200-54682400	Flanking Active TSS	Fetal Heart	heart
32	chr2:54682200-54682400	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr2:54682200-54682400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr2:54682200-54682400	Enhancers	Placenta	Placenta
35	chr2:54682200-54682400	Bivalent Enhancer	Fetal Thymus	thymus
36	chr2:54682200-54682400	Weak transcription	Lung	lung
37	chr2:54682200-54682400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr2:54682200-54682400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr2:54682200-54682400	Active TSS	Right Ventricle	heart
40	chr2:54682200-54682400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:54682200-54682400	Enhancers	Spleen	Spleen
42	chr2:54682200-54682400	Bivalent Enhancer	GM12878-XiMat	blood
43	chr2:54682200-54682400	Enhancers	HMEC	breast
44	chr2:54682200-54682400	Enhancers	HSMM	muscle
45	chr2:54682200-54682400	Active TSS	NHLF	lung
46	chr2:54682200-54682600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:54682200-54682600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:54682200-54682600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr2:54682200-54682600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr2:54682200-54682600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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