Variant report

Variant	nsv532686
Chromosome Location	chr2:51078393-51222267
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	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
7	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
8	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
9	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a
10	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
11	CEBPB	chr2:51084918-51085221	HepG2	liver:	n/a	chr2:51085060-51085071
12	CEBPB	chr2:51080882-51081169	HepG2	liver:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
13	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
14	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
15	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
16	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
17	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
18	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
19	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
20	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
21	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
23	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
24	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
25	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
26	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
27	CEBPB	chr2:51080924-51081178	H1-hESC	embryonic stem cell:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
28	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:51080873-51081218	IMR90	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
30	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
31	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
32	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
33	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
34	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
35	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
36	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
37	CEBPB	chr2:51080893-51081164	Hela-S3	cervix:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
38	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071
41	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
42	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
43	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
44	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
45	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
46	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
47	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
48	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
49	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51218880-51218930	SK-N-MC	brain:	n/a
2	chr2:51218880-51218930	SK-N-MC	brain:	n/a
3	chr2:51218880-51218930	A549	lung:	n/a
4	chr2:51218880-51218930	HEEpiC	esophagus:	n/a
5	chr2:51218880-51218930	BE2_C	brain:	n/a
6	chr2:51218880-51218930	NB4	blood:	n/a
7	chr2:51218880-51218930	MCF-7	breast:	n/a
8	chr2:51218880-51218930	Hepatocyte	liver:	n/a
9	chr2:51218880-51218930	HepG2	liver:	n/a
10	chr2:51218880-51218930	AG09309	skin:	n/a
11	chr2:51218880-51218930	HAEpiC	amniotic membrane:	n/a
12	chr2:51218880-51218930	H1-hESC	embryonic stem cell:	embryo
13	chr2:51218880-51218930	HNPCEpiC	eye:	n/a
14	chr2:51218880-51218930	Caco-2	colon:	n/a
15	chr2:51218880-51218930	ovcar-3	ovarian:	n/a
16	chr2:51218880-51218930	ECC-1	luminal epithelium:	n/a
17	chr2:51218880-51218930	NHBE	bronchial:	n/a
18	chr2:51218880-51218930	PFSK-1	brain:	n/a
19	chr2:51218880-51218930	PANC-1	pancreas:	n/a
20	chr2:51218880-51218930	ProgFib	skin:	n/a
21	chr2:51218880-51218930	AG04450	lung:	fetal
22	chr2:51218880-51218930	LNCaP	prostate:	n/a
23	chr2:51218880-51218930	SKMC	muscle:	n/a
24	chr2:51218880-51218930	HIPEpiC	eye:	n/a
25	chr2:51218880-51218930	HEK293	kidney:	embryo
26	chr2:51218880-51218930	HMEC	breast:	n/a
27	chr2:51218880-51218930	NH-A	brain:	n/a
28	chr2:51218880-51218930	GM12892	blood:	n/a
29	chr2:51218880-51218930	AG04449	skin:	fetal
30	chr2:51218880-51218930	U87	brain:	n/a
31	chr2:51218880-51218930	HL-60	blood:	n/a
32	chr2:51218880-51218930	GM06990	blood:	n/a
33	chr2:51218880-51218930	IMR90	lung:	fetal
34	chr2:51218880-51218930	HCF	heart:	n/a
35	chr2:51218880-51218930	T-47D	breast:	n/a
36	chr2:51218880-51218930	HUVEC	blood vessel:	n/a
37	chr2:51218880-51218930	HRPEpiC	eye:	n/a
38	chr2:51218880-51218930	NT2-D1	testis:	n/a
39	chr2:51218880-51218930	HCM	heart:	n/a
40	chr2:51218880-51218930	CMK	blood:	n/a
41	chr2:51218880-51218930	AoSMC	blood vessel:	n/a
42	chr2:51218880-51218930	GM12891	blood:	n/a
43	chr2:51218880-51218930	RPTEC	kidney:	n/a
44	chr2:51218880-51218930	HCT-116	colon:	n/a
45	chr2:51218880-51218930	AG09319	gingival:	n/a
46	chr2:51218880-51218930	BJ	skin:	n/a
47	chr2:51218880-51218930	Hela-S3	cervix:	n/a
48	chr2:51218880-51218930	SAEC	small airway:	n/a
49	chr2:51218880-51218930	K562	blood:	n/a
50	chr2:51218880-51218930	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
2	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
3	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
4	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
5	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
6	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
7	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
8	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
9	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
10	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
11	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
12	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
13	chr2:51084150..51086897-chr2:51088805..51090362,2	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: 5562 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:5562 , 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	rs546834214	chr2:51078436-51078437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs41422052	chr2:51078447-51078448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs185807929	chr2:51078530-51078531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79735006	chr2:51078601-51078602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556264294	chr2:51078618-51078619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577998618	chr2:51078644-51078645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545141154	chr2:51078708-51078709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374600242	chr2:51078719-51078720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572227169	chr2:51078751-51078752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200065722	chr2:51078752-51078753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542831399	chr2:51078770-51078771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561111736	chr2:51078776-51078777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189924795	chr2:51078777-51078778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62140624	chr2:51078800-51078801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564685773	chr2:51078807-51078808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368510219	chr2:51078821-51078822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547149391	chr2:51078856-51078857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558116426	chr2:51078914-51078915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181364884	chr2:51078921-51078922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151254826	chr2:51078923-51078924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549142596	chr2:51078924-51078925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140442968	chr2:51078961-51078962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75793857	chr2:51079015-51079016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368109799	chr2:51079045-51079046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150012867	chr2:51079072-51079073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571501331	chr2:51079073-51079074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113687682	chr2:51079075-51079076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186437102	chr2:51079117-51079118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190655270	chr2:51079120-51079121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572550672	chr2:51079121-51079122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182871848	chr2:51079183-51079184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554397107	chr2:51079266-51079267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554796651	chr2:51079271-51079272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572895288	chr2:51079274-51079275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186266963	chr2:51079307-51079308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190731862	chr2:51079308-51079309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371384032	chr2:51079315-51079316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565206481	chr2:51079366-51079367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145224179	chr2:51079392-51079393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541004926	chr2:51079397-51079398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541320220	chr2:51079409-51079410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142561822	chr2:51079434-51079435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2193225	chr2:51079482-51079483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs146704001	chr2:51079497-51079498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567477771	chr2:51079545-51079546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531933211	chr2:51079552-51079553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375241351	chr2:51079569-51079570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147926294	chr2:51079617-51079618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571896736	chr2:51079628-51079629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538994093	chr2:51079658-51079659	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
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

Chromatin state (count:423 , 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	chr2:51077400-51078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:51077600-51078600	Enhancers	Fetal Brain Male	brain
4	chr2:51078200-51078400	Enhancers	Fetal Brain Female	brain
5	chr2:51078200-51078800	Enhancers	Pancreas	Pancrea
6	chr2:51078200-51089600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:51078400-51079200	Weak transcription	Fetal Brain Female	brain
8	chr2:51078600-51079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:51078600-51080200	Weak transcription	Fetal Brain Male	brain
10	chr2:51079200-51079400	Enhancers	Fetal Brain Female	brain
11	chr2:51079400-51080200	Weak transcription	Fetal Brain Female	brain
12	chr2:51080000-51080400	Enhancers	Brain Germinal Matrix	brain
13	chr2:51080200-51080600	Enhancers	Fetal Brain Male	brain
14	chr2:51080200-51080800	Enhancers	Fetal Brain Female	brain
15	chr2:51080400-51084400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:51080600-51083200	Weak transcription	Fetal Brain Male	brain
17	chr2:51080800-51081200	Weak transcription	Fetal Brain Female	brain
18	chr2:51081200-51081800	Enhancers	Fetal Brain Female	brain
19	chr2:51081800-51082800	Weak transcription	Fetal Brain Female	brain
20	chr2:51082600-51085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:51082800-51083200	Enhancers	Fetal Brain Female	brain
22	chr2:51083200-51084400	Enhancers	Fetal Brain Male	brain
23	chr2:51083200-51084800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:51083200-51108400	Weak transcription	Fetal Brain Female	brain
25	chr2:51083400-51084200	Enhancers	Fetal Kidney	kidney
26	chr2:51084400-51085000	Weak transcription	Fetal Brain Male	brain
27	chr2:51084400-51085200	Enhancers	Ovary	ovary
28	chr2:51084400-51086600	Enhancers	Brain Germinal Matrix	brain
29	chr2:51084800-51089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:51085000-51085200	Enhancers	Fetal Brain Male	brain
31	chr2:51085200-51085600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:51085200-51085600	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:51085200-51086000	Weak transcription	Ovary	ovary
34	chr2:51085200-51089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:51085400-51085800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:51085600-51090200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:51085600-51090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:51085800-51090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:51086000-51086600	Enhancers	Ovary	ovary
40	chr2:51086200-51086600	Enhancers	Brain Angular Gyrus	brain
41	chr2:51086600-51089600	Weak transcription	Brain Germinal Matrix	brain
42	chr2:51086800-51087200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:51089600-51089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:51089600-51090400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:51089600-51091400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:51089600-51091800	Enhancers	Brain Germinal Matrix	brain
47	chr2:51089800-51090400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:51090000-51091400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:51090000-51092200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:51090200-51091000	Enhancers	Brain Cingulate Gyrus	brain

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