Variant report

Variant	nsv916152
Chromosome Location	chr5:45273586-46115086
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	ATF1	chr5:45520472-45520538	K562	blood:	n/a	n/a
2	ATF1	chr5:45779869-45779893	K562	blood:	n/a	n/a
3	ATF1	chr5:45384259-45384430	K562	blood:	n/a	n/a
4	ATF2	chr5:45793625-45794610	GM12878	blood:	n/a	n/a
5	ATF2	chr5:45793733-45794112	GM12878	blood:	n/a	n/a
6	BACH1	chr5:45622469-45623083	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:45622547-45622743	K562	blood:	n/a	n/a
8	BACH1	chr5:45695045-45695509	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:45696406-45696585	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr5:46078760-46079137	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr5:45694432-45694821	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr5:45793742-45794099	GM12878	blood:	n/a	n/a
13	BATF	chr5:45793691-45794568	GM12878	blood:	n/a	n/a
14	BATF	chr5:45794116-45794419	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:45793646-45794647	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:45793739-45794103	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:45794121-45794555	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:46093351-46093544	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:45848140-45848326	H1-hESC	embryonic stem cell:	n/a	n/a
20	BHLHE40	chr5:45793537-45794787	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:45799491-45799496	GM12878	blood:	n/a	n/a
22	BRCA1	chr5:45412229-45412265	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:45564807-45564864	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:45551191-45551382	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr5:45624018-45624277	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:45696466-45696687	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr5:45279148-45279663	HCT-116	colon:	n/a	n/a
28	CBX3	chr5:45385629-45386224	HCT-116	colon:	n/a	n/a
29	CBX3	chr5:45277804-45278448	HCT-116	colon:	n/a	n/a
30	CBX3	chr5:45385462-45386770	HCT-116	colon:	n/a	n/a
31	CEBPB	chr5:45740075-45740364	A549	lung:	n/a	chr5:45740245-45740256
32	CEBPB	chr5:45822073-45822347	HepG2	liver:	n/a	chr5:45822202-45822215 chr5:45822242-45822253 chr5:45822202-45822213
33	CEBPB	chr5:45893484-45893777	A549	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
34	CEBPB	chr5:45443698-45444134	HepG2	liver:	n/a	chr5:45444028-45444039 chr5:45443784-45443795 chr5:45443784-45443797
35	CEBPB	chr5:45588337-45588611	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:45509164-45509380	HepG2	liver:	n/a	n/a
37	CEBPB	chr5:45893462-45893790	HepG2	liver:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
38	CEBPB	chr5:46098760-46098808	A549	lung:	n/a	n/a
39	CEBPB	chr5:45684255-45684548	Hela-S3	cervix:	n/a	chr5:45684417-45684428 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684416-45684427 chr5:45684418-45684427 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684418-45684427
40	CEBPB	chr5:45787466-45787674	HepG2	liver:	n/a	chr5:45787597-45787608
41	CEBPB	chr5:45454133-45454270	HepG2	liver:	n/a	chr5:45454221-45454232
42	CEBPB	chr5:45385237-45386284	HCT-116	colon:	n/a	n/a
43	CEBPB	chr5:45781873-45782081	HepG2	liver:	n/a	chr5:45782013-45782024
44	CEBPB	chr5:45684295-45684568	A549	lung:	n/a	chr5:45684417-45684428 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684416-45684427 chr5:45684418-45684427 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684418-45684427
45	CEBPB	chr5:45684380-45684554	H1-hESC	embryonic stem cell:	n/a	chr5:45684417-45684428 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684416-45684427 chr5:45684418-45684427 chr5:45684416-45684429 chr5:45684418-45684427 chr5:45684418-45684427
46	CEBPB	chr5:45893506-45893786	IMR90	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
47	CEBPB	chr5:45787427-45787684	IMR90	lung:	n/a	chr5:45787597-45787608
48	CEBPB	chr5:45443682-45444157	IMR90	lung:	n/a	chr5:45444028-45444039 chr5:45443784-45443795 chr5:45443784-45443797
49	CEBPB	chr5:45279219-45279745	HCT-116	colon:	n/a	n/a
50	CEBPB	chr5:45529506-45529762	HepG2	liver:	n/a	chr5:45529613-45529626 chr5:45529613-45529624 chr5:45529614-45529625 chr5:45529615-45529624

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:45696465-45696515	HUVEC	blood vessel:	n/a
2	chr5:45553518-45553568	A549	lung:	n/a
3	chr5:45695922-45695972	HepG2	liver:	n/a
4	chr5:45678610-45678660	HCM	heart:	n/a
5	chr5:45694523-45694573	PrEC	prostate:	n/a
6	chr5:45553518-45553568	PrEC	prostate:	n/a
7	chr5:45693264-45693314	NT2-D1	testis:	n/a
8	chr5:45696465-45696515	Jurkat	blood:	n/a
9	chr5:45649048-45649098	AoSMC	blood vessel:	n/a
10	chr5:45678610-45678660	GM06990	blood:	n/a
11	chr5:45695467-45695517	Caco-2	colon:	n/a
12	chr5:45696592-45696642	NB4	blood:	n/a
13	chr5:45695241-45695291	HCM	heart:	n/a
14	chr5:45569042-45569092	HUVEC	blood vessel:	n/a
15	chr5:45569042-45569092	HCF	heart:	n/a
16	chr5:45696928-45696978	Hela-S3	cervix:	n/a
17	chr5:45288543-45288593	HCPEpiC	choroid plexus:	n/a
18	chr5:45694523-45694573	GM12878	blood:	n/a
19	chr5:45553518-45553568	AG09319	gingival:	n/a
20	chr5:45696206-45696256	ovcar-3	ovarian:	n/a
21	chr5:45695241-45695291	SAEC	small airway:	n/a
22	chr5:45696465-45696515	HAEpiC	amniotic membrane:	n/a
23	chr5:45678610-45678660	CMK	blood:	n/a
24	chr5:45693264-45693314	PrEC	prostate:	n/a
25	chr5:45695922-45695972	K562	blood:	n/a
26	chr5:45288543-45288593	NT2-D1	testis:	n/a
27	chr5:45499395-45499445	MCF10A-Er-Src	breast:	n/a
28	chr5:45696491-45696541	BE2_C	brain:	n/a
29	chr5:45694523-45694573	NH-A	brain:	n/a
30	chr5:45696465-45696515	ovcar-3	ovarian:	n/a
31	chr5:45694523-45694573	LNCaP	prostate:	n/a
32	chr5:45724903-45724953	MCF10A-Er-Src	breast:	n/a
33	chr5:45499395-45499445	AG04450	lung:	fetal
34	chr5:45693264-45693314	HNPCEpiC	eye:	n/a
35	chr5:45696465-45696515	BE2_C	brain:	n/a
36	chr5:45694523-45694573	SKMC	muscle:	n/a
37	chr5:45693264-45693314	Jurkat	blood:	n/a
38	chr5:45700402-45700452	PrEC	prostate:	n/a
39	chr5:45649048-45649098	AG09309	skin:	n/a
40	chr5:45696491-45696541	HNPCEpiC	eye:	n/a
41	chr5:45696592-45696642	AoSMC	blood vessel:	n/a
42	chr5:45693264-45693314	SAEC	small airway:	n/a
43	chr5:45696206-45696256	SKMC	muscle:	n/a
44	chr5:45678610-45678660	K562	blood:	n/a
45	chr5:45694523-45694573	Caco-2	colon:	n/a
46	chr5:45695241-45695291	GM12891	blood:	n/a
47	chr5:45696928-45696978	A549	lung:	n/a
48	chr5:45553518-45553568	MCF10A-Er-Src	breast:	n/a
49	chr5:45724903-45724953	U87	brain:	n/a
50	chr5:45678610-45678660	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
2	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
3	chr5:45038244..45038751-chr5:45773997..45774955,2	MCF-7	breast:
4	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:
5	chr5:44952363..44953098-chr5:45773975..45774930,2	MCF-7	breast:
6	chr5:45635537..45637341-chr5:45642108..45644494,2	K562	blood:
7	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
8	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
9	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
10	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
11	chr5:45688826..45690382-chr5:45691879..45693420,2	K562	blood:
12	chr15:66571588..66572090-chr5:45541388..45542303,2	MCF-7	breast:
13	chr5:45635537..45637341-chr5:45642108..45644494,2	K562	blood:
14	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
15	chr1:205318512..205319277-chr5:45469628..45470349,2	MCF-7	breast:
16	chr5:45688826..45690382-chr5:45691879..45693420,2	K562	blood:
17	chr5:44952326..44952886-chr5:45639183..45639775,2	MCF-7	breast:
18	chr11:62608627..62609151-chr5:45773998..45774657,2	MCF-7	breast:
19	chr5:45700474..45703420-chr5:45719507..45722171,2	MCF-7	breast:
20	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
21	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
22	chr5:45700474..45703420-chr5:45719507..45722171,2	MCF-7	breast:
23	chr5:45292372..45295265-chr5:45301198..45304020,2	MCF-7	breast:
24	chr5:45038409..45039119-chr5:45520902..45521831,4	MCF-7	breast:
25	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
26	chr13:55537336..55537947-chr5:45562607..45563107,2	MCF-7	breast:
27	chr5:45487505..45488239-chr6:10695353..10695968,2	MCF-7	breast:
28	chr5:44952200..44952811-chr5:45521283..45521849,2	MCF-7	breast:
29	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
30	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-13	chr5:45574692-45576714	NONHSAT101361
2	lnc-MRPS30-12	chr5:45558021-45560088	NONHSAT101360
3	lnc-MRPS30-14	chr5:45752904-45753159	NONHSAT101363
4	lnc-MRPS30-14	chr5:45749057-45749335	NONHSAT101363
5	lnc-MRPS30-14	chr5:45753168-45753300	NONHSAT101363

Variant related genes	Relation type
HCN1	TF binding region
ENSG00000250422	TF binding region
ENSG00000250122	TF binding region
ENSG00000250017	TF binding region
HCN1	CpG island
ENSG00000250422	CpG island
ENSG00000250122	CpG island
ENSG00000250017	CpG island
ENSG00000199426	chromatin interactions

Extended variants
information (count: 18587 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:18587 , 50 per page) page: 1 2 3 4 5 6 7 ... 372

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536877970	chr5:45273587-45273588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553396479	chr5:45273588-45273589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190995513	chr5:45273589-45273590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372893496	chr5:45273590-45273591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541246929	chr5:45273722-45273723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557649904	chr5:45273732-45273733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371942791	chr5:45273743-45273744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543307326	chr5:45273757-45273758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562951660	chr5:45273762-45273763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528819768	chr5:45273776-45273777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183251296	chr5:45273805-45273806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186809588	chr5:45273820-45273821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567373490	chr5:45273877-45273878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551985684	chr5:45273886-45273887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562761591	chr5:45273909-45273910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534599880	chr5:45273910-45273911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565328924	chr5:45274041-45274042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555157819	chr5:45274093-45274094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567372845	chr5:45274109-45274110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140818711	chr5:45274120-45274121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534296960	chr5:45274133-45274134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552936893	chr5:45274253-45274254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552735567	chr5:45274296-45274297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192214062	chr5:45274355-45274356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16902082	chr5:45274379-45274380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546653104	chr5:45274403-45274404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183342255	chr5:45274422-45274423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368359671	chr5:45274454-45274455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538744440	chr5:45274481-45274482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117396593	chr5:45274484-45274485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577374044	chr5:45274500-45274501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377120049	chr5:45274511-45274512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536961568	chr5:45274543-45274544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556804957	chr5:45274564-45274565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577476002	chr5:45274580-45274581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187930464	chr5:45274611-45274612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542244520	chr5:45274629-45274630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148228430	chr5:45274657-45274658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193184229	chr5:45274734-45274735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370220529	chr5:45274744-45274745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565484187	chr5:45274761-45274762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531091658	chr5:45274767-45274768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73752447	chr5:45274825-45274826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185165273	chr5:45274841-45274842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561595456	chr5:45274875-45274876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188771537	chr5:45274910-45274911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192497843	chr5:45274920-45274921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566746879	chr5:45275028-45275029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73099433	chr5:45275033-45275034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372536587	chr5:45275060-45275061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45272000-45277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:45273400-45273600	Enhancers	Fetal Heart	heart
3	chr5:45273400-45273600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:45273400-45273600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:45273600-45274800	Enhancers	Liver	Liver
6	chr5:45274000-45275000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:45274800-45275000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:45275000-45276000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:45276000-45276400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:45277000-45278000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:45277400-45280400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:45277800-45278200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:45277800-45278200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:45277800-45279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:45277800-45279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:45278000-45279000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:45278000-45279800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:45278200-45278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:45278200-45278400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:45278200-45279600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:45278400-45280400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:45278400-45280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:45279000-45279600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:45279000-45279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:45279800-45280400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:45280000-45280600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:45280200-45280400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:45280400-45280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:45280400-45281400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr5:45280400-45281400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:45280600-45280800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr5:45280600-45280800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr5:45281400-45287800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:45284200-45285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:45284600-45284800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:45284600-45285000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:45284600-45285200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:45284600-45285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:45284800-45288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:45285000-45288600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:45285200-45288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:45285200-45288400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:45285400-45287800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:45287800-45289000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:45287800-45289600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:45287800-45289800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:45287800-45289800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:45288000-45288800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:45288000-45289000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:45288400-45288800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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