Variant report

Variant	nsv531869
Chromosome Location	chr2:51083410-51226229
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	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
6	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
7	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a
8	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
9	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
10	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
11	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
12	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
13	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
14	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
15	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
16	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
17	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:51084918-51085221	HepG2	liver:	n/a	chr2:51085060-51085071
19	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
20	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
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	chr2:51185023-51185436	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
23	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
24	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
25	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
26	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
27	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
28	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
29	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
30	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
31	CEBPB	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
35	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071
36	CEBPB	chr2:51180205-51180442	H1-hESC	embryonic stem cell:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
37	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
38	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
39	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
40	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
41	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
42	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
43	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
44	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
45	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
46	CHD2	chr2:51179784-51180498	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr2:51099880-51100030	HCT-116	colon:	n/a	n/a
48	CTCF	chr2:51099800-51099950	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr2:51099720-51099870	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr2:51146900-51147050	HPAF	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51218880-51218930	HIPEpiC	eye:	n/a
2	chr2:51218880-51218930	SK-N-MC	brain:	n/a
3	chr2:51218880-51218930	SK-N-SH	brain:	n/a
4	chr2:51218880-51218930	T-47D	breast:	n/a
5	chr2:51218880-51218930	LNCaP	prostate:	n/a
6	chr2:51218880-51218930	HCF	heart:	n/a
7	chr2:51218880-51218930	AG10803	skin:	n/a
8	chr2:51218880-51218930	NHDF-neo	bronchial:	n/a
9	chr2:51218880-51218930	HEEpiC	esophagus:	n/a
10	chr2:51218880-51218930	BJ	skin:	n/a
11	chr2:51218880-51218930	HEK293	kidney:	embryo
12	chr2:51218880-51218930	CMK	blood:	n/a
13	chr2:51218880-51218930	GM19239	blood:	n/a
14	chr2:51218880-51218930	NHBE	bronchial:	n/a
15	chr2:51218880-51218930	HUVEC	blood vessel:	n/a
16	chr2:51218880-51218930	GM12891	blood:	n/a
17	chr2:51218880-51218930	HMEC	breast:	n/a
18	chr2:51218880-51218930	SAEC	small airway:	n/a
19	chr2:51218880-51218930	GM12892	blood:	n/a
20	chr2:51218880-51218930	HRPEpiC	eye:	n/a
21	chr2:51218880-51218930	Jurkat	blood:	n/a
22	chr2:51218880-51218930	U87	brain:	n/a
23	chr2:51218880-51218930	HL-60	blood:	n/a
24	chr2:51218880-51218930	HCT-116	colon:	n/a
25	chr2:51218880-51218930	ProgFib	skin:	n/a
26	chr2:51218880-51218930	HRE	kidney:	n/a
27	chr2:51218880-51218930	NH-A	brain:	n/a
28	chr2:51218880-51218930	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:51218880-51218930	SK-N-SH_RA	brain:	n/a
30	chr2:51218880-51218930	HAEpiC	amniotic membrane:	n/a
31	chr2:51218880-51218930	MCF-7	breast:	n/a
32	chr2:51218880-51218930	PANC-1	pancreas:	n/a
33	chr2:51218880-51218930	GM06990	blood:	n/a
34	chr2:51218880-51218930	SKMC	muscle:	n/a
35	chr2:51218880-51218930	Hela-S3	cervix:	n/a
36	chr2:51218880-51218930	ovcar-3	ovarian:	n/a
37	chr2:51218880-51218930	BE2_C	brain:	n/a
38	chr2:51218880-51218930	HRCEpiC	kidney:	n/a
39	chr2:51218880-51218930	AG09309	skin:	n/a
40	chr2:51218880-51218930	A549	lung:	n/a
41	chr2:51218880-51218930	AG04449	skin:	fetal
42	chr2:51218880-51218930	K562	blood:	n/a
43	chr2:51218880-51218930	AG09319	gingival:	n/a
44	chr2:51218880-51218930	AoSMC	blood vessel:	n/a
45	chr2:51218880-51218930	PrEC	prostate:	n/a
46	chr2:51218880-51218930	NT2-D1	testis:	n/a
47	chr2:51218880-51218930	PFSK-1	brain:	n/a
48	chr2:51218880-51218930	IMR90	lung:	fetal
49	chr2:51218880-51218930	Caco-2	colon:	n/a
50	chr2:51218880-51218930	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
2	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
3	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
4	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
5	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
6	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
7	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
8	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
9	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
10	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
11	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
12	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
13	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:

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

Extended variants
information (count: 5553 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:5553 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528566569	chr2:51083429-51083430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148509630	chr2:51083459-51083460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62140625	chr2:51083505-51083506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567351004	chr2:51083536-51083537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142770894	chr2:51083544-51083545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557265925	chr2:51083601-51083602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575806755	chr2:51083659-51083660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10490174	chr2:51083678-51083679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558054316	chr2:51083688-51083689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184013013	chr2:51083811-51083812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540381842	chr2:51083880-51083881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540218961	chr2:51083939-51083940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561775807	chr2:51083994-51083995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574047702	chr2:51084040-51084041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544732107	chr2:51084071-51084072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531108653	chr2:51084090-51084091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533153797	chr2:51084127-51084128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568783633	chr2:51084148-51084149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373872353	chr2:51084205-51084206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140855064	chr2:51084283-51084284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557453819	chr2:51084316-51084317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187331791	chr2:51084317-51084318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190949355	chr2:51084326-51084327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144700144	chr2:51084331-51084332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147942897	chr2:51084335-51084336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533640543	chr2:51084336-51084337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141742258	chr2:51084337-51084338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541907837	chr2:51084445-51084446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182848493	chr2:51084447-51084448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117597241	chr2:51084527-51084528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539661062	chr2:51084550-51084551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557964672	chr2:51084587-51084588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566802987	chr2:51084643-51084644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534268799	chr2:51084649-51084650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370231648	chr2:51084673-51084674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573988749	chr2:51084697-51084698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573462253	chr2:51084720-51084721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542518470	chr2:51084759-51084760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114558968	chr2:51084765-51084766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35166571	chr2:51084800-51084801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538225422	chr2:51084806-51084807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577728645	chr2:51084814-51084815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545206364	chr2:51084825-51084826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560414981	chr2:51084893-51084894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72265957	chr2:51084956-51084957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527579107	chr2:51084957-51084958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542955700	chr2:51084997-51084998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72838785	chr2:51085023-51085024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563759244	chr2:51085079-51085080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115803442	chr2:51085080-51085081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51075000-51084400	Weak transcription	Ovary	ovary
2	chr2:51078200-51089600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:51080400-51084400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:51082600-51085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:51083200-51084400	Enhancers	Fetal Brain Male	brain
6	chr2:51083200-51084800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:51083200-51108400	Weak transcription	Fetal Brain Female	brain
8	chr2:51083400-51084200	Enhancers	Fetal Kidney	kidney
9	chr2:51084400-51085000	Weak transcription	Fetal Brain Male	brain
10	chr2:51084400-51085200	Enhancers	Ovary	ovary
11	chr2:51084400-51086600	Enhancers	Brain Germinal Matrix	brain
12	chr2:51084800-51089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:51085000-51085200	Enhancers	Fetal Brain Male	brain
14	chr2:51085200-51085600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:51085200-51085600	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:51085200-51086000	Weak transcription	Ovary	ovary
17	chr2:51085200-51089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:51085400-51085800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:51085600-51090200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:51085600-51090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:51085800-51090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:51086000-51086600	Enhancers	Ovary	ovary
23	chr2:51086200-51086600	Enhancers	Brain Angular Gyrus	brain
24	chr2:51086600-51089600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:51086800-51087200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:51089600-51089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:51089600-51090400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:51089600-51091400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:51089600-51091800	Enhancers	Brain Germinal Matrix	brain
30	chr2:51089800-51090400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:51090000-51091400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:51090000-51092200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:51090200-51091000	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:51090400-51090600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:51090400-51090800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:51090400-51091200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:51090400-51091200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:51090400-51091200	Enhancers	Brain Substantia Nigra	brain
39	chr2:51090400-51091400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:51090400-51091400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:51090400-51091400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:51090400-51091600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:51090400-51092200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:51090600-51090800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:51090600-51091200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:51090600-51091400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:51090600-51091400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:51090800-51091000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:51090800-51091400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:51090800-51091600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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