Variant report

Variant	nsv549466
Chromosome Location	chr1:242713574-243141099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1627)
CpG islands
(count:915)
Chromatin interactive
region (count:31)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1627 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:243088083-243088303	K562	blood:	n/a	n/a
2	ATF2	chr1:242976778-242977056	GM12878	blood:	n/a	n/a
3	ATF2	chr1:242749196-242749772	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:243122482-243122506	K562	blood:	n/a	n/a
5	BACH1	chr1:242802067-242802078	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:242908535-242908689	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:242765415-242765554	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:242848092-242848258	K562	blood:	n/a	n/a
9	BACH1	chr1:242996994-242996997	K562	blood:	n/a	n/a
10	BACH1	chr1:242918799-242919176	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:242907415-242907671	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr1:242749309-242749565	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL11A	chr1:242976721-242977165	GM12878	blood:	n/a	chr1:242976959-242976968
14	BCL11A	chr1:242976760-242977140	GM12878	blood:	n/a	chr1:242976959-242976968
15	BCL3	chr1:242843343-242843676	GM12878	blood:	n/a	n/a
16	BCL3	chr1:242843399-242843681	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:243087986-243088483	K562	blood:	n/a	n/a
18	BHLHE40	chr1:242976782-242977230	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:243031757-243031938	GM12878	blood:	n/a	n/a
20	BRCA1	chr1:242997383-242997489	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:242749358-242749729	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr1:242954012-242954043	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:242798548-242798608	HepG2	liver:	n/a	n/a
24	CBX3	chr1:243087941-243088379	K562	blood:	n/a	n/a
25	CBX3	chr1:243053418-243053739	K562	blood:	n/a	n/a
26	CBX3	chr1:243130209-243130606	K562	blood:	n/a	n/a
27	CBX3	chr1:243100093-243100300	K562	blood:	n/a	n/a
28	CCNT2	chr1:243087975-243088306	K562	blood:	n/a	n/a
29	CCNT2	chr1:243129321-243129526	K562	blood:	n/a	n/a
30	CEBPB	chr1:243118303-243118616	K562	blood:	n/a	chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118438-243118447 chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118436-243118447 chr1:243118437-243118448 chr1:243118438-243118447
31	CEBPB	chr1:242721635-242721826	HepG2	liver:	n/a	chr1:242721724-242721735
32	CEBPB	chr1:242861497-242861649	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:243072543-243072743	K562	blood:	n/a	chr1:243072592-243072603
34	CEBPB	chr1:243072507-243072681	IMR90	lung:	n/a	chr1:243072592-243072603
35	CEBPB	chr1:242933686-242933998	A549	lung:	n/a	n/a
36	CEBPB	chr1:242998985-242999533	A549	lung:	n/a	n/a
37	CEBPB	chr1:242798128-242798506	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:242766628-242766982	IMR90	lung:	n/a	n/a
39	CEBPB	chr1:242933600-242934106	A549	lung:	n/a	n/a
40	CEBPB	chr1:242774541-242774804	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:242899993-242900287	HepG2	liver:	n/a	chr1:242900141-242900152
42	CEBPB	chr1:242914758-242914854	A549	lung:	n/a	chr1:242914783-242914796
43	CEBPB	chr1:243118300-243118585	A549	lung:	n/a	chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118438-243118447 chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118436-243118447 chr1:243118437-243118448 chr1:243118438-243118447
44	CEBPB	chr1:242731749-242731841	K562	blood:	n/a	chr1:242731782-242731793 chr1:242731783-242731794
45	CEBPB	chr1:243105260-243105310	HepG2	liver:	n/a	chr1:243105272-243105283
46	CEBPB	chr1:242899978-242900301	A549	lung:	n/a	chr1:242900141-242900152
47	CEBPB	chr1:243118255-243118634	K562	blood:	n/a	chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118438-243118447 chr1:243118438-243118447 chr1:243118436-243118449 chr1:243118436-243118447 chr1:243118437-243118448 chr1:243118438-243118447
48	CEBPB	chr1:243072449-243072662	HepG2	liver:	n/a	chr1:243072592-243072603
49	CEBPB	chr1:242815292-242815888	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:242791286-242791544	HepG2	liver:	n/a	chr1:242791427-242791436 chr1:242791479-242791490 chr1:242791479-242791492 chr1:242791425-242791436 chr1:242791480-242791491 chr1:242791479-242791492 chr1:242791479-242791490

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:243050875-243050925	LNCaP	prostate:	n/a
2	chr1:242749065-242749115	HRE	kidney:	n/a
3	chr1:243053865-243053915	HMEC	breast:	n/a
4	chr1:243138527-243138577	PANC-1	pancreas:	n/a
5	chr1:242874219-242874269	SK-N-SH_RA	brain:	n/a
6	chr1:242937866-242937916	ProgFib	skin:	n/a
7	chr1:243053934-243053984	SK-N-SH	brain:	n/a
8	chr1:243050875-243050925	HL-60	blood:	n/a
9	chr1:243050875-243050925	AG09319	gingival:	n/a
10	chr1:243053934-243053984	HAEpiC	amniotic membrane:	n/a
11	chr1:243054071-243054121	NHBE	bronchial:	n/a
12	chr1:243054071-243054121	GM12891	blood:	n/a
13	chr1:243138527-243138577	HCPEpiC	choroid plexus:	n/a
14	chr1:243057080-243057130	HAEpiC	amniotic membrane:	n/a
15	chr1:242874219-242874269	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:242767727-242767777	RPTEC	kidney:	n/a
17	chr1:243053425-243053475	BJ	skin:	n/a
18	chr1:243138527-243138577	GM12892	blood:	n/a
19	chr1:243054071-243054121	HRE	kidney:	n/a
20	chr1:242936925-242936975	NHBE	bronchial:	n/a
21	chr1:243139525-243139575	HCT-116	colon:	n/a
22	chr1:242937866-242937916	MCF10A-Er-Src	breast:	n/a
23	chr1:242937866-242937916	HIPEpiC	eye:	n/a
24	chr1:242767942-242767992	MCF10A-Er-Src	breast:	n/a
25	chr1:243053425-243053475	RPTEC	kidney:	n/a
26	chr1:243053673-243053723	AoSMC	blood vessel:	n/a
27	chr1:242874219-242874269	GM12878	blood:	n/a
28	chr1:242937866-242937916	HUVEC	blood vessel:	n/a
29	chr1:242767727-242767777	HMEC	breast:	n/a
30	chr1:243139525-243139575	NHDF-neo	bronchial:	n/a
31	chr1:243053425-243053475	CMK	blood:	n/a
32	chr1:243138527-243138577	PrEC	prostate:	n/a
33	chr1:242874219-242874269	H1-hESC	embryonic stem cell:	embryo
34	chr1:242767727-242767777	PANC-1	pancreas:	n/a
35	chr1:243053865-243053915	SK-N-SH_RA	brain:	n/a
36	chr1:242767727-242767777	SK-N-SH	brain:	n/a
37	chr1:243053673-243053723	HEK293	kidney:	embryo
38	chr1:243139525-243139575	AG04450	lung:	fetal
39	chr1:243138527-243138577	IMR90	lung:	fetal
40	chr1:242937866-242937916	NHBE	bronchial:	n/a
41	chr1:242937866-242937916	K562	blood:	n/a
42	chr1:243050875-243050925	ECC-1	luminal epithelium:	n/a
43	chr1:242937866-242937916	SAEC	small airway:	n/a
44	chr1:242749065-242749115	K562	blood:	n/a
45	chr1:242749065-242749115	RPTEC	kidney:	n/a
46	chr1:242749065-242749115	Jurkat	blood:	n/a
47	chr1:242767942-242767992	Hepatocyte	liver:	n/a
48	chr1:243054071-243054121	PFSK-1	brain:	n/a
49	chr1:243139525-243139575	BJ	skin:	n/a
50	chr1:243053865-243053915	Jurkat	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
2	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:
3	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
4	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
5	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
6	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
7	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
8	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:
9	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
10	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
11	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
12	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
13	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
14	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
15	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
16	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:
17	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
18	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
19	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
20	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:
21	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:
22	chr1:242817323..242819787-chr1:242897350..242900264,2	K562	blood:
23	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
24	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
25	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
26	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
27	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
28	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:
29	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
30	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:
31	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP170-7	chr1:243078426-243078834	expReg_chr1_22680_-
2	lnc-SDCCAG8-4	chr1:242834442-242834878	NONHSAT010573
3	lnc-CEP170-9	chr1:243076807-243077141	expReg_chr1_22678_-
4	lnc-PLD5-2	chr1:242717038-242717147	XLOC_001281
5	lnc-CEP170-8	chr1:243077153-243077520	expReg_chr1_22679_-
6	lnc-PLD5-2	chr1:242717724-242718022	XLOC_001281
7	lnc-CEP170-9	chr1:243076529-243076866	refGeneNc_994_NR_026778
8	lnc-CEP170-9	chr1:243070564-243075269	refGeneNc_994_NR_026778

No data

Variant related genes	Relation type
ENSG00000230199	TF binding region
ENSG00000270859	TF binding region
ENSG00000270818	TF binding region
RSL24D1P4	TF binding region
ENSG00000264972	TF binding region
ENSG00000230199	CpG island
ENSG00000270859	CpG island
ENSG00000270818	CpG island
RSL24D1P4	CpG island
ENSG00000264972	CpG island
DACT1	miRNA target sites
DAB2IP	miRNA target sites

Extended variants
information (count: 10783 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:10783 , 50 per page) page: 1 2 3 4 5 6 7 ... 216

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2654877	chr1:242713574-242713575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186148014	chr1:242713576-242713577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570857787	chr1:242713578-242713579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374783412	chr1:242713580-242713581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59330969	chr1:242713594-242713595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149302499	chr1:242713604-242713605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569078876	chr1:242713615-242713616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144527739	chr1:242713632-242713633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574450830	chr1:242713633-242713634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570547210	chr1:242713662-242713663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540255052	chr1:242713695-242713696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34656489	chr1:242713719-242713720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191049763	chr1:242713740-242713741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369918953	chr1:242713748-242713749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553784232	chr1:242713775-242713776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541725148	chr1:242713837-242713838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148482661	chr1:242713903-242713904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182542204	chr1:242713996-242713997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548870959	chr1:242713999-242714000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80293392	chr1:242714017-242714018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73150046	chr1:242714020-242714021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187246666	chr1:242714030-242714031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562061851	chr1:242714041-242714042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527974730	chr1:242714115-242714116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527630452	chr1:242714139-242714140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547393544	chr1:242714154-242714155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570864383	chr1:242714155-242714156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34129609	chr1:242714157-242714158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58213784	chr1:242714158-242714159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78560426	chr1:242714169-242714170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397983557	chr1:242714172-242714173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533262243	chr1:242714194-242714195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550276710	chr1:242714204-242714205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57004895	chr1:242714227-242714228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538053448	chr1:242714270-242714271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554876285	chr1:242714283-242714284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570097557	chr1:242714300-242714301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192056824	chr1:242714303-242714304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537577900	chr1:242714308-242714309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553481688	chr1:242714312-242714313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576819972	chr1:242714315-242714316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553674665	chr1:242714316-242714317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556259863	chr1:242714324-242714325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183145012	chr1:242714370-242714371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542018837	chr1:242714374-242714375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59906077	chr1:242714393-242714394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139848355	chr1:242714417-242714418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541753682	chr1:242714425-242714426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574583201	chr1:242714433-242714434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145334543	chr1:242714444-242714445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242711000-242718000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:242717400-242718200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:242717800-242718600	Enhancers	HMEC	breast
4	chr1:242718000-242718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:242718400-242719600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242718600-242719600	Weak transcription	HMEC	breast
7	chr1:242719600-242720400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242719600-242720400	Enhancers	HMEC	breast
9	chr1:242720400-242733400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:242723000-242723600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:242723600-242723800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:242723800-242724000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:242733000-242733800	Enhancers	HMEC	breast
14	chr1:242733200-242733600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:242733400-242734000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:242734000-242747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:242737400-242738200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:242742600-242742800	Enhancers	A549	lung
19	chr1:242742800-242743200	Flanking Active TSS	A549	lung
20	chr1:242743200-242743600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:242743200-242744200	Enhancers	A549	lung
22	chr1:242744200-242746000	Weak transcription	A549	lung
23	chr1:242745800-242747200	Enhancers	HepG2	liver
24	chr1:242746000-242746200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:242746000-242746400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:242746000-242747000	Enhancers	A549	lung
27	chr1:242746200-242746400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:242746400-242747800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:242746600-242748800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:242747800-242748000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:242747800-242748000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr1:242747800-242748000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:242747800-242748000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:242748000-242748600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:242748000-242749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:242748400-242750000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:242748400-242750200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:242748600-242749000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:242748600-242750000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:242748800-242749000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:242748800-242749000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:242748800-242749600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:242748800-242749800	Enhancers	Brain Germinal Matrix	brain
44	chr1:242748800-242750200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:242748800-242750200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:242748800-242750200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:242748800-242750600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:242749000-242749200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:242749000-242750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:242749000-242750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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