Variant report

Variant	nsv933819
Chromosome Location	chr2:51099263-51259201
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	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
11	CEBPB	chr2:51255896-51256399	A549	lung:	n/a	chr2:51256172-51256183
12	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
13	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
14	CEBPB	chr2:51180127-51180593	ECC-1	luminal epithelium:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
15	CEBPB	chr2:51185052-51185376	ECC-1	luminal epithelium:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
16	CEBPB	chr2:51180081-51180588	ECC-1	luminal epithelium:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
17	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:51229690-51229927	A549	lung:	n/a	chr2:51229820-51229831
19	CEBPB	chr2:51185019-51185391	H1-hESC	embryonic stem cell:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
20	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
21	CEBPB	chr2:51185008-51185377	MCF-7	breast:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
22	CEBPB	chr2:51185005-51185419	IMR90	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
23	CEBPB	chr2:51185072-51185406	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
24	CEBPB	chr2:51185035-51185357	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
25	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:51256026-51256305	HepG2	liver:	n/a	chr2:51256172-51256183
27	CEBPB	chr2:51256004-51256330	K562	blood:	n/a	chr2:51256172-51256183
28	CEBPB	chr2:51184978-51185335	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
29	CEBPB	chr2:51185053-51185350	ECC-1	luminal epithelium:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
30	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
31	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
32	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
34	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
35	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
36	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
37	CEBPB	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
38	CEBPB	chr2:51185039-51185390	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
39	CEBPB	chr2:51185063-51185361	K562	blood:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
40	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
41	CEBPB	chr2:51185020-51185401	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
42	CEBPB	chr2:51185023-51185436	MCF-7	breast:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
43	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
44	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183
45	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
46	CEBPB	chr2:51185077-51185269	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185201-51185210 chr2:51185201-51185210
47	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
48	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
49	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
50	CEBPB	chr2:51185014-51185411	Hela-S3	cervix:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51254981-51255031	PFSK-1	brain:	n/a
2	chr2:51254823-51254873	HUVEC	blood vessel:	n/a
3	chr2:51255306-51255356	HEK293	kidney:	embryo
4	chr2:51254132-51254182	HRE	kidney:	n/a
5	chr2:51252301-51252351	CMK	blood:	n/a
6	chr2:51218880-51218930	BE2_C	brain:	n/a
7	chr2:51255627-51255677	Jurkat	blood:	n/a
8	chr2:51254823-51254873	HepG2	liver:	n/a
9	chr2:51228125-51228175	HCT-116	colon:	n/a
10	chr2:51218880-51218930	HL-60	blood:	n/a
11	chr2:51252301-51252351	BE2_C	brain:	n/a
12	chr2:51254132-51254182	MCF10A-Er-Src	breast:	n/a
13	chr2:51254021-51254071	Hepatocyte	liver:	n/a
14	chr2:51252301-51252351	HCM	heart:	n/a
15	chr2:51231649-51231699	A549	lung:	n/a
16	chr2:51254132-51254182	SKMC	muscle:	n/a
17	chr2:51254823-51254873	HL-60	blood:	n/a
18	chr2:51254102-51254152	GM19239	blood:	n/a
19	chr2:51254981-51255031	ECC-1	luminal epithelium:	n/a
20	chr2:51254102-51254152	HRPEpiC	eye:	n/a
21	chr2:51254021-51254071	GM12891	blood:	n/a
22	chr2:51255627-51255677	AG04449	skin:	fetal
23	chr2:51240310-51240360	HepG2	liver:	n/a
24	chr2:51255324-51255374	LNCaP	prostate:	n/a
25	chr2:51254132-51254182	HRPEpiC	eye:	n/a
26	chr2:51255627-51255677	HCM	heart:	n/a
27	chr2:51254823-51254873	HCT-116	colon:	n/a
28	chr2:51254170-51254220	HCM	heart:	n/a
29	chr2:51231649-51231699	HRCEpiC	kidney:	n/a
30	chr2:51254102-51254152	SKMC	muscle:	n/a
31	chr2:51255627-51255677	MCF-7	breast:	n/a
32	chr2:51255306-51255356	HAEpiC	amniotic membrane:	n/a
33	chr2:51218880-51218930	HCPEpiC	choroid plexus:	n/a
34	chr2:51218880-51218930	NB4	blood:	n/a
35	chr2:51240310-51240360	U87	brain:	n/a
36	chr2:51255306-51255356	HCM	heart:	n/a
37	chr2:51254823-51254873	HRCEpiC	kidney:	n/a
38	chr2:51254102-51254152	HNPCEpiC	eye:	n/a
39	chr2:51254132-51254182	ovcar-3	ovarian:	n/a
40	chr2:51254102-51254152	GM06990	blood:	n/a
41	chr2:51254132-51254182	HepG2	liver:	n/a
42	chr2:51240310-51240360	NT2-D1	testis:	n/a
43	chr2:51254981-51255031	BE2_C	brain:	n/a
44	chr2:51254132-51254182	HMEC	breast:	n/a
45	chr2:51254823-51254873	AG09309	skin:	n/a
46	chr2:51231649-51231699	HRPEpiC	eye:	n/a
47	chr2:51254102-51254152	AG10803	skin:	n/a
48	chr2:51252301-51252351	HEEpiC	esophagus:	n/a
49	chr2:51252301-51252351	HCT-116	colon:	n/a
50	chr2:51255627-51255677	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
2	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
3	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
4	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
5	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
6	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
7	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
8	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
9	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
10	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
11	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:

Variant related genes	Relation type
NRXN1	TF binding region
ENSG00000216011	TF binding region
ENSG00000272385	TF binding region
ENSG00000231918	TF binding region
NRXN1	CpG island
ENSG00000216011	CpG island
ENSG00000272385	CpG island
ENSG00000231918	CpG island

Extended variants
information (count: 6460 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:6460 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72891320	chr2:51099265-51099266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560599067	chr2:51099266-51099267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72840209	chr2:51099304-51099305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557864091	chr2:51099305-51099306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115698716	chr2:51099316-51099317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116000365	chr2:51099364-51099365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145916020	chr2:51099371-51099372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186756322	chr2:51099381-51099382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571386622	chr2:51099410-51099411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538439934	chr2:51099415-51099416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553979841	chr2:51099438-51099439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565828654	chr2:51099446-51099447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7340368	chr2:51099453-51099454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188367192	chr2:51099462-51099463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554100019	chr2:51099485-51099486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575656187	chr2:51099494-51099495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536717090	chr2:51099496-51099497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181579248	chr2:51099497-51099498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558357151	chr2:51099543-51099544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576896592	chr2:51099575-51099576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539477287	chr2:51099596-51099597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560777330	chr2:51099644-51099645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552985325	chr2:51099679-51099680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185738393	chr2:51099680-51099681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28558227	chr2:51099747-51099748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141666582	chr2:51099885-51099886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149246874	chr2:51099888-51099889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543345429	chr2:51099904-51099905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190986558	chr2:51099971-51099972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370648132	chr2:51099990-51099991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147819991	chr2:51100011-51100012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538208756	chr2:51100028-51100029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551484602	chr2:51100039-51100040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184172183	chr2:51100076-51100077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79165826	chr2:51100097-51100098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs207461746	chr2:51100133-51100134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532680156	chr2:51100140-51100141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147528262	chr2:51100144-51100145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371979397	chr2:51100146-51100147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547235977	chr2:51100175-51100176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561740338	chr2:51100181-51100182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187144261	chr2:51100198-51100199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191201747	chr2:51100262-51100263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182348616	chr2:51100310-51100311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188295141	chr2:51100365-51100366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536630285	chr2:51100389-51100390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141466517	chr2:51100404-51100405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575348961	chr2:51100498-51100499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375277014	chr2:51100506-51100507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576853000	chr2:51100529-51100530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	17989066	CNVD
Autism	19404257	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:908 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51083200-51108400	Weak transcription	Fetal Brain Female	brain
2	chr2:51101000-51104400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:51102800-51103000	Enhancers	Fetal Brain Male	brain
4	chr2:51103200-51104200	Weak transcription	Fetal Brain Male	brain
5	chr2:51104200-51105000	Enhancers	Fetal Brain Male	brain
6	chr2:51104400-51104800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:51104600-51105000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:51108600-51109000	Enhancers	Brain Germinal Matrix	brain
9	chr2:51110800-51114000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:51111000-51111200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:51111000-51113200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:51111000-51113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:51111200-51111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:51111800-51112400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:51111800-51112800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:51112800-51113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:51113600-51114400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:51114400-51114800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:51122600-51132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:51129200-51129400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:51129200-51130000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:51129400-51134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:51130000-51134800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:51134000-51135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:51134600-51135000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:51134800-51136800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:51135000-51137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:51136400-51137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:51136400-51137000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:51136400-51137200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:51136400-51137200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:51136600-51137000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:51136600-51137000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:51136600-51137000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:51136600-51137200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:51136800-51140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:51137000-51140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:51137200-51151400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:51137400-51138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:51138200-51138400	Enhancers	Fetal Brain Female	brain
41	chr2:51138200-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:51138400-51147800	Weak transcription	Fetal Brain Female	brain
43	chr2:51139600-51140800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:51140000-51140400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:51140800-51142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:51141200-51141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:51142600-51142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:51144600-51147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:51147200-51147400	Enhancers	Brain Germinal Matrix	brain
50	chr2:51147200-51149000	Enhancers	Pancreatic Islets	Pancreatic Islet

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