Variant report

Variant	nsv591889
Chromosome Location	chr3:140769896-140778138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:140769669-140770314	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:140770618-140770876	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr3:140769922-140770142	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr3:140771576-140771976	H1-hESC	embryonic stem cell:	n/a	chr3:140771835-140771844
5	CEBPB	chr3:140769888-140770174	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr3:140770451-140770569	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr3:140769682-140770094	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr3:140770599-140771129	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr3:140771582-140772030	H1-hESC	embryonic stem cell:	n/a	chr3:140771835-140771844 chr3:140771761-140771771
10	CHD2	chr3:140769691-140770376	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr3:140769410-140770971	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:140770579-140770729	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:140769920-140770070	SAEC	small airway:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
14	CTCF	chr3:140769801-140770277	H1-hESC	embryonic stem cell:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
15	CTCF	chr3:140769980-140770130	GM12868	blood:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
16	CTCF	chr3:140769880-140770030	BJ	skin:	n/a	n/a
17	CTCF	chr3:140769980-140770130	HA-sp	spinal cord:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
18	CTCF	chr3:140770540-140770690	HEK293	kidney:	n/a	n/a
19	CTCF	chr3:140770555-140770775	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr3:140770620-140770770	BE2_C	brain:	n/a	n/a
21	CTCF	chr3:140769960-140770110	HUVEC	blood vessel:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
22	CTCF	chr3:140769940-140770090	GM12872	blood:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
23	CTCF	chr3:140769960-140770110	HRPEpiC	eye:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
24	CTCF	chr3:140769980-140770130	MCF-7	breast:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
25	CTCF	chr3:140770500-140770650	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr3:140771020-140771170	HL-60	blood:	n/a	n/a
27	CTCF	chr3:140770520-140770670	AG09319	gingival:	n/a	n/a
28	CTCF	chr3:140770600-140770750	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr3:140770546-140770754	A549	lung:	n/a	n/a
30	CTCF	chr3:140770547-140770738	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:140770546-140770738	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr3:140769900-140770050	HMEC	breast:	n/a	n/a
33	CTCF	chr3:140770528-140770637	Lung_OC	lung:	n/a	n/a
34	CTCF	chr3:140769980-140770130	NB4	blood:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
35	CTCF	chr3:140769980-140770130	HFF	foreskin:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
36	CTCF	chr3:140769960-140770110	WERI-Rb-1	eye:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
37	CTCF	chr3:140770580-140770730	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr3:140769920-140770070	HCT-116	colon:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
39	CTCF	chr3:140769925-140770139	SK-N-SH_RA	brain:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
40	CTCF	chr3:140770520-140770670	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr3:140769983-140770104	NHEK	skin:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
42	CTCF	chr3:140769940-140770090	HCPEpiC	choroid plexus:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
43	CTCF	chr3:140769980-140770130	NHDF-neo	bronchial:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
44	CTCF	chr3:140770600-140770750	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr3:140769760-140769910	HRE	kidney:	n/a	n/a
46	CTCF	chr3:140769971-140770132	Gliobla	brain:	n/a	chr3:140770040-140770053 chr3:140770041-140770051 chr3:140770040-140770053 chr3:140770038-140770056
47	CTCF	chr3:140770597-140770700	Fibrobl	skin:	n/a	n/a
48	CTCF	chr3:140770576-140770705	ProgFib	skin:	n/a	n/a
49	CTCF	chr3:140770620-140770770	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:140770569-140770767	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:140770549-140770599	MCF10A-Er-Src	breast:	n/a
2	chr3:140770617-140770667	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:140770549-140770599	AG09309	skin:	n/a
4	chr3:140771786-140771836	ProgFib	skin:	n/a
5	chr3:140770683-140770733	AG04450	lung:	fetal
6	chr3:140771184-140771234	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:140771372-140771422	BJ	skin:	n/a
8	chr3:140770608-140770658	AoSMC	blood vessel:	n/a
9	chr3:140774868-140774918	Jurkat	blood:	n/a
10	chr3:140770984-140771034	GM12891	blood:	n/a
11	chr3:140770308-140770358	H1-hESC	embryonic stem cell:	embryo
12	chr3:140771372-140771422	PrEC	prostate:	n/a
13	chr3:140770751-140770801	GM19239	blood:	n/a
14	chr3:140770588-140770638	HAEpiC	amniotic membrane:	n/a
15	chr3:140770013-140770063	ovcar-3	ovarian:	n/a
16	chr3:140770549-140770599	SKMC	muscle:	n/a
17	chr3:140770683-140770733	HUVEC	blood vessel:	n/a
18	chr3:140771372-140771422	HCT-116	colon:	n/a
19	chr3:140770549-140770599	MCF-7	breast:	n/a
20	chr3:140771372-140771422	Hepatocyte	liver:	n/a
21	chr3:140771786-140771836	HCT-116	colon:	n/a
22	chr3:140770608-140770658	AG04449	skin:	fetal
23	chr3:140770864-140770914	HNPCEpiC	eye:	n/a
24	chr3:140770306-140770356	HCT-116	colon:	n/a
25	chr3:140770617-140770667	RPTEC	kidney:	n/a
26	chr3:140771184-140771234	Caco-2	colon:	n/a
27	chr3:140771656-140771706	ECC-1	luminal epithelium:	n/a
28	chr3:140770013-140770063	AG09319	gingival:	n/a
29	chr3:140770617-140770667	Caco-2	colon:	n/a
30	chr3:140770864-140770914	BJ	skin:	n/a
31	chr3:140770345-140770395	HMEC	breast:	n/a
32	chr3:140770608-140770658	HEK293	kidney:	embryo
33	chr3:140770617-140770667	HCF	heart:	n/a
34	chr3:140770013-140770063	HCPEpiC	choroid plexus:	n/a
35	chr3:140770984-140771034	HNPCEpiC	eye:	n/a
36	chr3:140771786-140771836	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:140771372-140771422	HEEpiC	esophagus:	n/a
38	chr3:140770306-140770356	HEK293	kidney:	embryo
39	chr3:140770683-140770733	HRCEpiC	kidney:	n/a
40	chr3:140770213-140770263	NT2-D1	testis:	n/a
41	chr3:140770013-140770063	PANC-1	pancreas:	n/a
42	chr3:140771184-140771234	GM12891	blood:	n/a
43	chr3:140770588-140770638	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:140770523-140770573	NT2-D1	testis:	n/a
45	chr3:140771184-140771234	NT2-D1	testis:	n/a
46	chr3:140770608-140770658	HIPEpiC	eye:	n/a
47	chr3:140770345-140770395	GM12878	blood:	n/a
48	chr3:140770213-140770263	PFSK-1	brain:	n/a
49	chr3:140770608-140770658	H1-hESC	embryonic stem cell:	embryo
50	chr3:140770549-140770599	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr3:140766170..140768825-chr3:140770762..140772841,2	MCF-7	breast:
2	chr3:140763223..140765937-chr3:140775586..140778392,2	K562	blood:
3	chr17:33477684..33478239-chr3:140770419..140770939,2	MCF-7	breast:
4	chr3:140774491..140777455-chr3:140795854..140797381,2	K562	blood:
5	chr3:140769622..140773131-chr3:140773940..140776930,3	MCF-7	breast:

Variant related genes	Relation type
SPSB4	TF binding region
SPSB4	CpG island
ENSG00000175093	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2311492	chr3:140769896-140769897	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116114138	chr3:140769918-140769919	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560046990	chr3:140769941-140769942	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372877073	chr3:140769956-140769957	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2311493	chr3:140769966-140769967	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563772093	chr3:140769986-140769987	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531421581	chr3:140769988-140769989	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190626620	chr3:140770047-140770048	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs568171828	chr3:140770081-140770082	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528815680	chr3:140770113-140770114	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546990474	chr3:140770115-140770116	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565633045	chr3:140770194-140770195	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539386976	chr3:140770215-140770216	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs557917903	chr3:140770231-140770232	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs569777423	chr3:140770238-140770239	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs373087604	chr3:140770257-140770258	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11706047	chr3:140770323-140770324	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532766327	chr3:140770361-140770362	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368606525	chr3:140770420-140770421	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574089178	chr3:140770421-140770422	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375602798	chr3:140770439-140770440	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534969138	chr3:140770457-140770458	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181039560	chr3:140770462-140770463	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533038503	chr3:140770492-140770493	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545752618	chr3:140770515-140770516	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546777255	chr3:140770520-140770521	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529765419	chr3:140770539-140770540	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563886065	chr3:140770578-140770579	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575723428	chr3:140770581-140770582	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11713925	chr3:140770584-140770585	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183580436	chr3:140770616-140770617	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561578380	chr3:140770637-140770638	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529000279	chr3:140770673-140770674	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546978240	chr3:140770693-140770694	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147876058	chr3:140770699-140770700	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533034689	chr3:140770709-140770710	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551357795	chr3:140770710-140770711	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148916878	chr3:140770719-140770720	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113898300	chr3:140770762-140770763	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549164087	chr3:140770769-140770770	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567760764	chr3:140770806-140770807	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527580065	chr3:140770838-140770839	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535166207	chr3:140770889-140770890	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553389490	chr3:140770899-140770900	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116374527	chr3:140770941-140770942	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143609555	chr3:140770978-140770979	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557339799	chr3:140771006-140771007	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111636425	chr3:140771072-140771073	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568608513	chr3:140771084-140771085	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5853016	chr3:140771151-140771152	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140769000-140770000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:140769000-140770000	Flanking Active TSS	Dnd41	blood
3	chr3:140769200-140770000	Enhancers	Fetal Heart	heart
4	chr3:140769200-140770800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr3:140769400-140770000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr3:140769400-140770000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:140769400-140770000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:140769400-140770000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr3:140769400-140770000	Bivalent Enhancer	Lung	lung
10	chr3:140769400-140770000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr3:140769400-140770000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
12	chr3:140769400-140770600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr3:140769400-140770600	Enhancers	Esophagus	oesophagus
14	chr3:140769400-140770800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:140769400-140770800	Enhancers	Liver	Liver
16	chr3:140769400-140771000	Bivalent/Poised TSS	NHEK	skin
17	chr3:140769400-140771200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr3:140769400-140771200	Active TSS	Fetal Brain Female	brain
19	chr3:140769400-140771400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr3:140769400-140771600	Bivalent Enhancer	Spleen	Spleen
21	chr3:140769400-140771800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:140769400-140772200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:140769400-140772400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:140769400-140772600	Active TSS	Fetal Kidney	kidney
25	chr3:140769600-140770000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:140769600-140770000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:140769600-140770000	Active TSS	Primary B cells from cord blood	blood
28	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
29	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr3:140769600-140770000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr3:140769600-140770000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr3:140769600-140770000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr3:140769600-140770000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:140769600-140770000	Bivalent Enhancer	HMEC	breast
42	chr3:140769600-140770200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:140769600-140770200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:140769600-140770200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:140769600-140770200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr3:140769600-140770400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:140769600-140770400	Active TSS	Brain Germinal Matrix	brain
48	chr3:140769600-140770600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:140769600-140770600	Active TSS	Right Ventricle	heart
50	chr3:140769600-140770800	Active TSS	HSMM	muscle

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