Variant report

Variant	nsv581861
Chromosome Location	chr2:51067675-51247657
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	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
9	CEBPB	chr2:51077727-51078088	H1-hESC	embryonic stem cell:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
10	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
11	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
12	CEBPB	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
14	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
15	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
16	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
17	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
18	CEBPB	chr2:51077765-51078077	A549	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
19	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
20	CEBPB	chr2:51229690-51229927	A549	lung:	n/a	chr2:51229820-51229831
21	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
22	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
23	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
24	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
25	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
26	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
27	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
28	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
29	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
30	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
31	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:51080893-51081164	Hela-S3	cervix:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
33	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
34	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
35	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
36	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
37	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
38	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
39	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
40	CEBPB	chr2:51080873-51081218	IMR90	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
41	CEBPB	chr2:51084918-51085221	HepG2	liver:	n/a	chr2:51085060-51085071
42	CEBPB	chr2:51077720-51078095	HepG2	liver:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
43	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
44	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071
45	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
46	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
47	CEBPB	chr2:51080882-51081169	HepG2	liver:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
48	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
49	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
50	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51231649-51231699	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:51074881-51074931	HEK293	kidney:	embryo
3	chr2:51231649-51231699	HUVEC	blood vessel:	n/a
4	chr2:51074939-51074989	BJ	skin:	n/a
5	chr2:51228125-51228175	LNCaP	prostate:	n/a
6	chr2:51228125-51228175	MCF-7	breast:	n/a
7	chr2:51231649-51231699	H1-hESC	embryonic stem cell:	embryo
8	chr2:51240310-51240360	HEEpiC	esophagus:	n/a
9	chr2:51240310-51240360	HNPCEpiC	eye:	n/a
10	chr2:51074939-51074989	Hepatocyte	liver:	n/a
11	chr2:51218880-51218930	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:51218880-51218930	AG10803	skin:	n/a
13	chr2:51074939-51074989	GM12891	blood:	n/a
14	chr2:51074939-51074989	HRCEpiC	kidney:	n/a
15	chr2:51231649-51231699	HRCEpiC	kidney:	n/a
16	chr2:51074939-51074989	PFSK-1	brain:	n/a
17	chr2:51231649-51231699	RPTEC	kidney:	n/a
18	chr2:51228125-51228175	HRPEpiC	eye:	n/a
19	chr2:51231649-51231699	IMR90	lung:	fetal
20	chr2:51228125-51228175	GM06990	blood:	n/a
21	chr2:51240310-51240360	BJ	skin:	n/a
22	chr2:51074881-51074931	HRCEpiC	kidney:	n/a
23	chr2:51240310-51240360	SKMC	muscle:	n/a
24	chr2:51228125-51228175	NHBE	bronchial:	n/a
25	chr2:51228125-51228175	HCT-116	colon:	n/a
26	chr2:51074939-51074989	SK-N-MC	brain:	n/a
27	chr2:51074939-51074989	HCF	heart:	n/a
28	chr2:51240310-51240360	Hela-S3	cervix:	n/a
29	chr2:51074881-51074931	NH-A	brain:	n/a
30	chr2:51074881-51074931	HNPCEpiC	eye:	n/a
31	chr2:51218880-51218930	HCT-116	colon:	n/a
32	chr2:51074939-51074989	GM12878	blood:	n/a
33	chr2:51231649-51231699	PFSK-1	brain:	n/a
34	chr2:51240310-51240360	HMEC	breast:	n/a
35	chr2:51074881-51074931	Hepatocyte	liver:	n/a
36	chr2:51074939-51074989	HEK293	kidney:	embryo
37	chr2:51074881-51074931	HRE	kidney:	n/a
38	chr2:51228125-51228175	PrEC	prostate:	n/a
39	chr2:51074881-51074931	Caco-2	colon:	n/a
40	chr2:51218880-51218930	NT2-D1	testis:	n/a
41	chr2:51228125-51228175	HRCEpiC	kidney:	n/a
42	chr2:51240310-51240360	PrEC	prostate:	n/a
43	chr2:51218880-51218930	PrEC	prostate:	n/a
44	chr2:51240310-51240360	H1-hESC	embryonic stem cell:	embryo
45	chr2:51074881-51074931	NB4	blood:	n/a
46	chr2:51240310-51240360	AG09309	skin:	n/a
47	chr2:51228125-51228175	AG09319	gingival:	n/a
48	chr2:51231649-51231699	Hepatocyte	liver:	n/a
49	chr2:51218880-51218930	GM12878	blood:	n/a
50	chr2:51228125-51228175	HepG2	liver:	n/a

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

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

Extended variants
information (count: 7072 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:7072 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11675267	chr2:51067675-51067676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576533497	chr2:51067764-51067765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371219788	chr2:51067769-51067770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543920047	chr2:51067782-51067783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565395677	chr2:51067807-51067808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185718532	chr2:51067808-51067809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111829794	chr2:51067846-51067847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72838714	chr2:51067860-51067861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559561436	chr2:51067866-51067867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376993004	chr2:51067891-51067892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192026159	chr2:51067893-51067894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10490176	chr2:51067934-51067935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528826041	chr2:51067941-51067942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563117030	chr2:51068004-51068005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530438029	chr2:51068014-51068015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551825308	chr2:51068024-51068025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570212767	chr2:51068025-51068026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528814428	chr2:51068055-51068056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547665779	chr2:51068056-51068057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147360674	chr2:51068097-51068098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536521872	chr2:51068107-51068108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555279150	chr2:51068183-51068184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576471920	chr2:51068200-51068201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184160974	chr2:51068202-51068203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139427728	chr2:51068225-51068226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577427073	chr2:51068230-51068231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566929532	chr2:51068249-51068250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541557618	chr2:51068274-51068275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79523235	chr2:51068307-51068308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17569799	chr2:51068308-51068309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549487210	chr2:51068318-51068319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576772271	chr2:51068338-51068339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541721977	chr2:51068401-51068402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563619345	chr2:51068458-51068459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569376121	chr2:51068462-51068463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530375736	chr2:51068487-51068488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145176910	chr2:51068499-51068500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563778674	chr2:51068580-51068581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375003970	chr2:51068581-51068582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147578700	chr2:51068639-51068640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546702485	chr2:51068649-51068650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566125085	chr2:51068657-51068658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530334051	chr2:51068678-51068679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375927518	chr2:51068679-51068680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548573401	chr2:51068683-51068684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149712270	chr2:51068685-51068686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57361520	chr2:51068688-51068689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558986309	chr2:51068702-51068703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563923629	chr2:51068729-51068730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145642364	chr2:51068851-51068852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Non-syndromic sensorineural hearing loss	21293372	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:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51059800-51074200	Weak transcription	Brain Germinal Matrix	brain
2	chr2:51063800-51067800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:51066000-51074600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:51066200-51073000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:51067600-51067800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:51067600-51068000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:51067600-51068200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:51067800-51068400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:51068000-51068400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:51068400-51069200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:51069200-51070000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:51070000-51078000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:51071200-51076000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:51073000-51073600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:51073200-51074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:51073400-51073600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:51073400-51073600	Enhancers	Ovary	ovary
18	chr2:51073400-51074400	Enhancers	Fetal Kidney	kidney
19	chr2:51073600-51074200	Weak transcription	Ovary	ovary
20	chr2:51074200-51074400	Enhancers	Brain Germinal Matrix	brain
21	chr2:51074200-51075000	Enhancers	Ovary	ovary
22	chr2:51074400-51076200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:51074400-51076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:51074600-51075000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:51074800-51075000	Enhancers	Pancreas	Pancrea
26	chr2:51075000-51084400	Weak transcription	Ovary	ovary
27	chr2:51075200-51077200	Weak transcription	Pancreas	Pancrea
28	chr2:51076800-51077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:51077000-51077400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:51077200-51077400	Enhancers	Pancreas	Pancrea
31	chr2:51077200-51077800	Enhancers	Liver	Liver
32	chr2:51077200-51078200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:51077400-51078200	Weak transcription	Pancreas	Pancrea
34	chr2:51077400-51078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:51077600-51078600	Enhancers	Fetal Brain Male	brain
36	chr2:51078000-51078200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:51078200-51078400	Enhancers	Fetal Brain Female	brain
38	chr2:51078200-51078800	Enhancers	Pancreas	Pancrea
39	chr2:51078200-51089600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:51078400-51079200	Weak transcription	Fetal Brain Female	brain
41	chr2:51078600-51079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:51078600-51080200	Weak transcription	Fetal Brain Male	brain
43	chr2:51079200-51079400	Enhancers	Fetal Brain Female	brain
44	chr2:51079400-51080200	Weak transcription	Fetal Brain Female	brain
45	chr2:51080000-51080400	Enhancers	Brain Germinal Matrix	brain
46	chr2:51080200-51080600	Enhancers	Fetal Brain Male	brain
47	chr2:51080200-51080800	Enhancers	Fetal Brain Female	brain
48	chr2:51080400-51084400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:51080600-51083200	Weak transcription	Fetal Brain Male	brain
50	chr2:51080800-51081200	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

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