Variant report

Variant	nsv532684
Chromosome Location	chr2:50937444-51226229
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	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:50955596-50955702	K562	blood:	n/a	n/a
3	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
8	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
9	CEBPB	chr2:51080893-51081164	Hela-S3	cervix:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
10	CEBPB	chr2:51042035-51042364	HepG2	liver:	n/a	chr2:51042175-51042186
11	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
12	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
13	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
14	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:51077765-51078077	A549	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
16	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
17	CEBPB	chr2:50951301-50951586	HepG2	liver:	n/a	chr2:50951423-50951436 chr2:50951424-50951435
18	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
19	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
20	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
21	CEBPB	chr2:51051532-51051664	HepG2	liver:	n/a	chr2:51051618-51051629 chr2:51051616-51051627 chr2:51051616-51051629
22	CEBPB	chr2:51039958-51040191	HepG2	liver:	n/a	n/a
23	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
24	CEBPB	chr2:50974968-50975018	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:50954382-50954517	HepG2	liver:	n/a	n/a
27	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
28	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
29	CEBPB	chr2:51080924-51081178	H1-hESC	embryonic stem cell:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
30	CEBPB	chr2:50952033-50952347	A549	lung:	n/a	n/a
31	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
32	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
34	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
35	CEBPB	chr2:50952036-50952291	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr2:51068879-51068992	HepG2	liver:	n/a	chr2:51068958-51068969
37	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
38	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
39	CEBPB	chr2:51080882-51081169	HepG2	liver:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
40	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
41	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
42	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
43	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
44	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
45	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
46	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
47	CEBPB	chr2:50951993-50952357	IMR90	lung:	n/a	n/a
48	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
49	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
50	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51056884-51056934	HCF	heart:	n/a
2	chr2:51065673-51065723	NB4	blood:	n/a
3	chr2:51056884-51056934	HCF	heart:	n/a
4	chr2:51065673-51065723	NB4	blood:	n/a
5	chr2:51056822-51056872	HCT-116	colon:	n/a
6	chr2:51074939-51074989	LNCaP	prostate:	n/a
7	chr2:51057218-51057268	PFSK-1	brain:	n/a
8	chr2:51056822-51056872	HCM	heart:	n/a
9	chr2:50992829-50992879	NHDF-neo	bronchial:	n/a
10	chr2:50956659-50956709	BE2_C	brain:	n/a
11	chr2:51074939-51074989	SAEC	small airway:	n/a
12	chr2:51057548-51057598	PANC-1	pancreas:	n/a
13	chr2:50992829-50992879	AG04449	skin:	fetal
14	chr2:51218880-51218930	SK-N-SH	brain:	n/a
15	chr2:51056822-51056872	AG10803	skin:	n/a
16	chr2:51056822-51056872	CMK	blood:	n/a
17	chr2:51056884-51056934	NHDF-neo	bronchial:	n/a
18	chr2:51001003-51001053	GM12878	blood:	n/a
19	chr2:51056884-51056934	SK-N-MC	brain:	n/a
20	chr2:51074881-51074931	RPTEC	kidney:	n/a
21	chr2:51057548-51057598	HCT-116	colon:	n/a
22	chr2:51074881-51074931	GM06990	blood:	n/a
23	chr2:51074881-51074931	PrEC	prostate:	n/a
24	chr2:50956659-50956709	GM12892	blood:	n/a
25	chr2:51001003-51001053	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:51074939-51074989	NHDF-neo	bronchial:	n/a
27	chr2:51074939-51074989	RPTEC	kidney:	n/a
28	chr2:51057548-51057598	HRCEpiC	kidney:	n/a
29	chr2:51065673-51065723	PFSK-1	brain:	n/a
30	chr2:51218880-51218930	HCF	heart:	n/a
31	chr2:51074881-51074931	HepG2	liver:	n/a
32	chr2:51218880-51218930	HRPEpiC	eye:	n/a
33	chr2:51057218-51057268	ovcar-3	ovarian:	n/a
34	chr2:51074939-51074989	Hepatocyte	liver:	n/a
35	chr2:51074881-51074931	ECC-1	luminal epithelium:	n/a
36	chr2:51057548-51057598	MCF-7	breast:	n/a
37	chr2:50956659-50956709	AoSMC	blood vessel:	n/a
38	chr2:51074939-51074989	PANC-1	pancreas:	n/a
39	chr2:51056822-51056872	PFSK-1	brain:	n/a
40	chr2:51056884-51056934	NT2-D1	testis:	n/a
41	chr2:51057548-51057598	GM12892	blood:	n/a
42	chr2:51057548-51057598	BE2_C	brain:	n/a
43	chr2:50956659-50956709	AG09309	skin:	n/a
44	chr2:51056884-51056934	SK-N-SH	brain:	n/a
45	chr2:51074939-51074989	HUVEC	blood vessel:	n/a
46	chr2:51065673-51065723	MCF-7	breast:	n/a
47	chr2:51074939-51074989	HRE	kidney:	n/a
48	chr2:51056884-51056934	SAEC	small airway:	n/a
49	chr2:51056822-51056872	HCPEpiC	choroid plexus:	n/a
50	chr2:51218880-51218930	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:
2	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
3	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
4	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
5	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
6	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
7	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
8	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
9	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
10	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
11	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
12	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
13	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
14	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
15	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
16	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
17	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
18	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
19	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
20	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
21	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
22	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
23	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSHR-5	chr2:51056580-51056816	NONHSAT070648

Variant related genes	Relation type
ENSG00000238165	TF binding region
ENSG00000215968	TF binding region
ENSG00000216011	TF binding region
ENSG00000272385	TF binding region
ENSG00000238165	CpG island
ENSG00000215968	CpG island
ENSG00000216011	CpG island
ENSG00000272385	CpG island

Extended variants
information (count: 10680 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:10680 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114172789	chr2:50937470-50937471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9309192	chr2:50937515-50937516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531371784	chr2:50937529-50937530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576595643	chr2:50937569-50937570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191058406	chr2:50937570-50937571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183254595	chr2:50937575-50937576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35007598	chr2:50937619-50937620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532107415	chr2:50937636-50937637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368864744	chr2:50937660-50937661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547471503	chr2:50937852-50937853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147804679	chr2:50937855-50937856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186835195	chr2:50937897-50937898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532780443	chr2:50937913-50937914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529680437	chr2:50937914-50937915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35302991	chr2:50937920-50937921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372268573	chr2:50937938-50937939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189731353	chr2:50937950-50937951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569829872	chr2:50937955-50937956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150848231	chr2:50937972-50937973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552075406	chr2:50938073-50938074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533825321	chr2:50938086-50938087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571758497	chr2:50938108-50938109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538759865	chr2:50938109-50938110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560879737	chr2:50938126-50938127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17040972	chr2:50938133-50938134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138297102	chr2:50938177-50938178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4971690	chr2:50938209-50938210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182733986	chr2:50938211-50938212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374205591	chr2:50938233-50938234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539500984	chr2:50938271-50938272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536425138	chr2:50938323-50938324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556217373	chr2:50938327-50938328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576645332	chr2:50938354-50938355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544041969	chr2:50938373-50938374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117121062	chr2:50938394-50938395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200837065	chr2:50938429-50938430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9751302	chr2:50938443-50938444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373640219	chr2:50938468-50938469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76718736	chr2:50938487-50938488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74938459	chr2:50938496-50938497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527284608	chr2:50938525-50938526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147335562	chr2:50938541-50938542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559462703	chr2:50938542-50938543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529742971	chr2:50938550-50938551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75568614	chr2:50938556-50938557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374284555	chr2:50938560-50938561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76975945	chr2:50938564-50938565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541831665	chr2:50938583-50938584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75705473	chr2:50938611-50938612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79936114	chr2:50938618-50938619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	21990379	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
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Schizophrenia	20967226	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:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50916000-50948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:50930800-50941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:50935000-50939800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:50935000-50947400	Weak transcription	Fetal Brain Male	brain
5	chr2:50937200-50940600	Enhancers	Liver	Liver
6	chr2:50939600-50939800	Enhancers	Fetal Brain Female	brain
7	chr2:50939800-50942000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:50939800-50947600	Weak transcription	Fetal Brain Female	brain
9	chr2:50940600-50944800	Weak transcription	Liver	Liver
10	chr2:50941000-50942000	Enhancers	Fetal Kidney	kidney
11	chr2:50941400-50942000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:50941600-50945600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:50942000-50943200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:50942000-50947000	Weak transcription	Fetal Kidney	kidney
15	chr2:50942000-50947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:50943200-50944400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:50944400-50946800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:50944800-50945400	Enhancers	Liver	Liver
19	chr2:50945400-50945600	Enhancers	Brain Substantia Nigra	brain
20	chr2:50945400-50945800	Enhancers	Brain Hippocampus Middle	brain
21	chr2:50945400-50946600	Weak transcription	Liver	Liver
22	chr2:50945600-50946000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:50945600-50947400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:50945800-50946000	Enhancers	Brain Anterior Caudate	brain
25	chr2:50945800-50947600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:50946000-50947200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:50946000-50948000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:50946600-50948600	Enhancers	Liver	Liver
29	chr2:50946800-50947200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:50947000-50947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:50947000-50947600	Enhancers	Fetal Kidney	kidney
32	chr2:50947000-50948400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:50947000-50948800	Enhancers	Brain Angular Gyrus	brain
34	chr2:50947200-50947600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:50947200-50947800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:50947200-50948400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:50947200-50948600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:50947200-50948600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:50947400-50947600	Enhancers	Fetal Brain Male	brain
40	chr2:50947400-50947800	Enhancers	Brain Substantia Nigra	brain
41	chr2:50947400-50948200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:50947400-50948400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:50947400-50948600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:50947400-50948600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:50947400-50948600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:50947400-50948600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:50947400-50948800	Enhancers	Brain Germinal Matrix	brain
48	chr2:50947600-50948000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:50947600-50948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:50947600-50948200	Weak transcription	Fetal Brain Male	brain

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