Variant report

Variant	nsv1001613
Chromosome Location	chr1:72749848-72808756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:72750376-72750736	GM12878	blood:	n/a	n/a
2	ATF2	chr1:72750319-72750713	GM12878	blood:	n/a	n/a
3	BATF	chr1:72750337-72750724	GM12878	blood:	n/a	n/a
4	BATF	chr1:72750317-72750778	GM12878	blood:	n/a	n/a
5	BRCA1	chr1:72750323-72751066	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:72755092-72755159	HepG2	liver:	n/a	chr1:72755122-72755131 chr1:72755120-72755131
7	CEBPB	chr1:72762099-72762426	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:72748420-72750957	Hela-S3	cervix:	n/a	chr1:72750584-72750595 chr1:72748863-72748876 chr1:72750585-72750596 chr1:72750147-72750158
9	CEBPB	chr1:72750450-72750705	HepG2	liver:	n/a	chr1:72750584-72750595 chr1:72750585-72750596
10	CEBPB	chr1:72750011-72750992	IMR90	lung:	n/a	chr1:72750584-72750595 chr1:72750585-72750596 chr1:72750147-72750158
11	CHD1	chr1:72748624-72750228	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:72748405-72750930	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr1:72749095-72750447	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr1:72750306-72750765	GM12878	blood:	n/a	n/a
15	CTBP2	chr1:72747565-72750445	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:72750090-72750270	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:72750900-72751050	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr1:72750140-72750290	HRE	kidney:	n/a	n/a
19	CTCF	chr1:72750100-72750250	AG04449	skin:	n/a	n/a
20	CTCF	chr1:72750900-72751050	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr1:72788360-72788510	SAEC	small airway:	n/a	n/a
22	CTCF	chr1:72764636-72764722	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:72750142-72750255	GM19238	blood:	n/a	n/a
24	CTCF	chr1:72750100-72750250	Caco-2	colon:	n/a	n/a
25	CTCF	chr1:72750360-72750510	BJ	skin:	n/a	n/a
26	CTCF	chr1:72750960-72751110	AG09309	skin:	n/a	n/a
27	CTCF	chr1:72750080-72750230	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr1:72750140-72750290	BJ	skin:	n/a	n/a
29	CTCF	chr1:72788343-72788498	NHEK	skin:	n/a	n/a
30	CTCF	chr1:72750119-72750219	GM12878	blood:	n/a	n/a
31	CTCF	chr1:72750960-72751110	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr1:72750060-72750210	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr1:72750140-72750290	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr1:72788366-72788461	GM19239	blood:	n/a	n/a
35	CTCF	chr1:72750120-72750270	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr1:72750900-72751050	BJ	skin:	n/a	n/a
37	CTCF	chr1:72750100-72750250	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr1:72788394-72788437	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr1:72750096-72750259	Fibrobl	skin:	n/a	n/a
40	CTCF	chr1:72764612-72764712	HepG2	liver:	n/a	n/a
41	CTCF	chr1:72750100-72750250	HepG2	liver:	n/a	n/a
42	CTCF	chr1:72750180-72750330	HMEC	breast:	n/a	n/a
43	CTCF	chr1:72750087-72750298	NHEK	skin:	n/a	n/a
44	CTCF	chr1:72750060-72750210	HMF	breast:	n/a	n/a
45	CTCF	chr1:72750920-72751070	HCFaa	heart:	n/a	n/a
46	CTCF	chr1:72750180-72750330	WI-38	lung:	n/a	n/a
47	CTCF	chr1:72750080-72750230	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:72750149-72750236	GM10266	blood:	n/a	n/a
49	CTCF	chr1:72750120-72750270	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr1:72750120-72750270	WERI-Rb-1	eye:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:72749880-72749930	AG04450	lung:	fetal
2	chr1:72749880-72749930	GM12892	blood:	n/a
3	chr1:72750671-72750721	ovcar-3	ovarian:	n/a
4	chr1:72753076-72753126	AG10803	skin:	n/a
5	chr1:72750241-72750291	Hela-S3	cervix:	n/a
6	chr1:72750124-72750174	NHDF-neo	bronchial:	n/a
7	chr1:72750124-72750174	AG04449	skin:	fetal
8	chr1:72750124-72750174	ECC-1	luminal epithelium:	n/a
9	chr1:72750124-72750174	AG09319	gingival:	n/a
10	chr1:72750671-72750721	NT2-D1	testis:	n/a
11	chr1:72750124-72750174	AoSMC	blood vessel:	n/a
12	chr1:72753076-72753126	GM12878	blood:	n/a
13	chr1:72750502-72750552	IMR90	lung:	fetal
14	chr1:72750502-72750552	GM12878	blood:	n/a
15	chr1:72750671-72750721	Caco-2	colon:	n/a
16	chr1:72750124-72750174	MCF-7	breast:	n/a
17	chr1:72749880-72749930	NH-A	brain:	n/a
18	chr1:72750671-72750721	HEK293	kidney:	embryo
19	chr1:72750502-72750552	HRE	kidney:	n/a
20	chr1:72750241-72750291	ProgFib	skin:	n/a
21	chr1:72750671-72750721	H1-hESC	embryonic stem cell:	embryo
22	chr1:72749880-72749930	Caco-2	colon:	n/a
23	chr1:72753076-72753126	HRE	kidney:	n/a
24	chr1:72750671-72750721	HUVEC	blood vessel:	n/a
25	chr1:72750241-72750291	GM12892	blood:	n/a
26	chr1:72750241-72750291	CMK	blood:	n/a
27	chr1:72750502-72750552	NHBE	bronchial:	n/a
28	chr1:72753076-72753126	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:72750241-72750291	U87	brain:	n/a
30	chr1:72750671-72750721	AG09309	skin:	n/a
31	chr1:72750671-72750721	HL-60	blood:	n/a
32	chr1:72750502-72750552	AG09319	gingival:	n/a
33	chr1:72753076-72753126	RPTEC	kidney:	n/a
34	chr1:72753076-72753126	LNCaP	prostate:	n/a
35	chr1:72750241-72750291	HRPEpiC	eye:	n/a
36	chr1:72749880-72749930	IMR90	lung:	fetal
37	chr1:72753076-72753126	SK-N-MC	brain:	n/a
38	chr1:72750502-72750552	HepG2	liver:	n/a
39	chr1:72749880-72749930	HepG2	liver:	n/a
40	chr1:72750124-72750174	Hela-S3	cervix:	n/a
41	chr1:72750241-72750291	BE2_C	brain:	n/a
42	chr1:72750241-72750291	T-47D	breast:	n/a
43	chr1:72750241-72750291	HEK293	kidney:	embryo
44	chr1:72750124-72750174	AG10803	skin:	n/a
45	chr1:72750671-72750721	AoSMC	blood vessel:	n/a
46	chr1:72753076-72753126	SK-N-SH_RA	brain:	n/a
47	chr1:72753076-72753126	K562	blood:	n/a
48	chr1:72749880-72749930	HRE	kidney:	n/a
49	chr1:72753076-72753126	HEK293	kidney:	embryo
50	chr1:72750241-72750291	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:72752065..72752600-chr8:87527466..87528155,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL31P12	TF binding region
NEGR1	TF binding region
RPL31P12	CpG island
NEGR1	CpG island

Extended variants
information (count: 336 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3128341	chr1:72749848-72749849	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34521747	chr1:72749849-72749850	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181492792	chr1:72749864-72749865	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536322073	chr1:72749873-72749874	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116837919	chr1:72749888-72749889	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs531585268	chr1:72749891-72749892	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs184538119	chr1:72749898-72749899	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs544764651	chr1:72749920-72749921	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs565187705	chr1:72749927-72749928	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs531006893	chr1:72750010-72750011	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572246438	chr1:72750017-72750018	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114663807	chr1:72750027-72750028	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560707483	chr1:72750039-72750040	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79299311	chr1:72750056-72750057	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543485745	chr1:72750113-72750114	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549924832	chr1:72750122-72750123	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189249577	chr1:72750144-72750145	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs533903331	chr1:72750156-72750157	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs531954529	chr1:72750173-72750174	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs550385414	chr1:72750175-72750176	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551637793	chr1:72750190-72750191	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564865275	chr1:72750205-72750206	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532249972	chr1:72750206-72750207	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571956280	chr1:72750219-72750220	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534208241	chr1:72750255-72750256	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs547797332	chr1:72750268-72750269	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs567341391	chr1:72750289-72750290	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs3101338	chr1:72750353-72750354	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs556248373	chr1:72750367-72750368	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs117112700	chr1:72750373-72750374	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538491721	chr1:72750388-72750389	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565341623	chr1:72750399-72750400	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558462947	chr1:72750425-72750426	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs34361149	chr1:72750470-72750471	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11209943	chr1:72750500-72750501	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs554822174	chr1:72750510-72750511	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs574501460	chr1:72750530-72750531	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs543404079	chr1:72750531-72750532	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs576293858	chr1:72750532-72750533	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs535449485	chr1:72750580-72750581	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181226168	chr1:72750586-72750587	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs373107709	chr1:72750594-72750595	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12090068	chr1:72750601-72750602	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567516523	chr1:72750604-72750605	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112661383	chr1:72750612-72750613	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185830577	chr1:72750750-72750751	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12406817	chr1:72750773-72750774	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527856354	chr1:72750784-72750785	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547788847	chr1:72750797-72750798	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190692237	chr1:72750819-72750820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72743800-72751600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:72745000-72750800	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:72745000-72751200	Active TSS	Brain Angular Gyrus	brain
4	chr1:72745000-72751600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:72745200-72751400	Active TSS	Right Atrium	heart
6	chr1:72745800-72750800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:72745800-72750800	Active TSS	Brain Substantia Nigra	brain
8	chr1:72745800-72751200	Active TSS	Colon Smooth Muscle	Colon
9	chr1:72745800-72751400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:72745800-72751400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:72746000-72751400	Active TSS	Brain Anterior Caudate	brain
12	chr1:72746000-72751400	Active TSS	NHLF	lung
13	chr1:72746400-72750800	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:72746400-72751000	Active TSS	HSMMtube	muscle
15	chr1:72746600-72750000	Active TSS	HSMM	muscle
16	chr1:72746600-72750800	Active TSS	Psoas Muscle	Psoas
17	chr1:72746600-72751000	Active TSS	Fetal Stomach	stomach
18	chr1:72746800-72750200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:72746800-72751000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr1:72746800-72751400	Active TSS	Aorta	Aorta
21	chr1:72746800-72751600	Active TSS	NHDF-Ad	bronchial
22	chr1:72747000-72750600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
23	chr1:72747000-72750600	Active TSS	Hela-S3	cervix
24	chr1:72747000-72750800	Active TSS	Left Ventricle	heart
25	chr1:72747200-72750000	Active TSS	Osteobl	bone
26	chr1:72747200-72750400	Active TSS	Fetal Kidney	kidney
27	chr1:72747200-72751000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr1:72747200-72751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:72747200-72751400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:72747200-72751800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:72747400-72750600	Active TSS	Fetal Heart	heart
32	chr1:72747400-72750600	Active TSS	Thymus	Thymus
33	chr1:72747400-72750800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:72747400-72750800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:72747400-72751000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:72747400-72751000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:72747400-72751000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:72747400-72751000	Active TSS	Brain Hippocampus Middle	brain
39	chr1:72747400-72751200	Active TSS	Brain Cingulate Gyrus	brain
40	chr1:72747400-72751400	Active TSS	Ovary	ovary
41	chr1:72747600-72750000	Active TSS	Esophagus	oesophagus
42	chr1:72747600-72750400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:72747600-72750600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:72747600-72750600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr1:72747600-72750600	Active TSS	Right Ventricle	heart
46	chr1:72747600-72751000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr1:72747800-72750000	Active TSS	HUVEC	blood vessel
48	chr1:72747800-72750000	Active TSS	NH-A	brain
49	chr1:72747800-72750200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:72747800-72750400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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