Variant report

Variant	nsv1007773
Chromosome Location	chr2:57280011-57341167
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	ATF3	chr2:57307197-57307544	HCT-116	colon:	n/a	n/a
2	ATF3	chr2:57307177-57307600	HCT-116	colon:	n/a	n/a
3	BHLHE40	chr2:57323040-57323069	K562	blood:	n/a	n/a
4	BHLHE40	chr2:57296472-57296568	A549	lung:	n/a	n/a
5	CBX3	chr2:57307175-57307529	HCT-116	colon:	n/a	n/a
6	CBX3	chr2:57307210-57307602	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:57307153-57307509	HCT-116	colon:	n/a	n/a
8	CEBPB	chr2:57327747-57327964	K562	blood:	n/a	chr2:57327804-57327815
9	CEBPB	chr2:57325002-57325371	IMR90	lung:	n/a	chr2:57325181-57325192
10	CEBPB	chr2:57315662-57315950	HepG2	liver:	n/a	chr2:57315794-57315805
11	CEBPB	chr2:57327641-57327987	IMR90	lung:	n/a	chr2:57327804-57327815
12	CEBPB	chr2:57325039-57325264	Hela-S3	cervix:	n/a	chr2:57325181-57325192
13	CEBPB	chr2:57297485-57297666	A549	lung:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
14	CEBPB	chr2:57297417-57297708	HepG2	liver:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
15	CEBPB	chr2:57315693-57315923	A549	lung:	n/a	chr2:57315794-57315805
16	CEBPB	chr2:57325031-57325317	H1-hESC	embryonic stem cell:	n/a	chr2:57325181-57325192
17	CEBPB	chr2:57281660-57281670	K562	blood:	n/a	n/a
18	CEBPB	chr2:57304143-57304343	HepG2	liver:	n/a	chr2:57304254-57304265
19	CEBPB	chr2:57325016-57325329	K562	blood:	n/a	chr2:57325181-57325192
20	CEBPB	chr2:57327623-57327964	HepG2	liver:	n/a	chr2:57327804-57327815
21	CEBPB	chr2:57325023-57325373	HepG2	liver:	n/a	chr2:57325181-57325192
22	CEBPB	chr2:57315773-57315845	K562	blood:	n/a	chr2:57315794-57315805
23	CEBPB	chr2:57327642-57327964	A549	lung:	n/a	chr2:57327804-57327815
24	CEBPB	chr2:57325005-57325372	A549	lung:	n/a	chr2:57325181-57325192
25	CEBPB	chr2:57323541-57323735	HepG2	liver:	n/a	chr2:57323574-57323583 chr2:57323572-57323583 chr2:57323574-57323583 chr2:57323572-57323585 chr2:57323574-57323583 chr2:57323574-57323585 chr2:57323574-57323583
26	CEBPB	chr2:57281573-57281844	HepG2	liver:	n/a	chr2:57281722-57281733
27	CEBPB	chr2:57304138-57304383	A549	lung:	n/a	chr2:57304254-57304265
28	CTCF	chr2:57319521-57319543	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:57333035-57333106	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:57319504-57319562	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:57310800-57310950	GM12864	blood:	n/a	n/a
32	CTCF	chr2:57300360-57300510	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr2:57333011-57333049	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:57332980-57333130	WERI-Rb-1	eye:	n/a	n/a
35	EP300	chr2:57307049-57307567	SK-N-SH	brain:	n/a	chr2:57307320-57307330
36	EP300	chr2:57307141-57307549	SK-N-SH_RA	brain:	n/a	chr2:57307320-57307330
37	EP300	chr2:57320167-57320630	T-47D	breast:	n/a	n/a
38	EP300	chr2:57320041-57320659	MCF-7	breast:	n/a	n/a
39	EP300	chr2:57307132-57307584	SK-N-SH	brain:	n/a	chr2:57307320-57307330
40	ESR1	chr2:57320149-57320567	T-47D	breast:	n/a	n/a
41	ESR1	chr2:57320093-57320569	T-47D	breast:	n/a	n/a
42	ESR1	chr2:57320086-57320556	T-47D	breast:	n/a	n/a
43	ESR1	chr2:57320163-57320484	T-47D	breast:	n/a	n/a
44	ESR1	chr2:57320178-57320497	T-47D	breast:	n/a	n/a
45	FOS	chr2:57293469-57293804	MCF10A-Er-Src	breast:	n/a	chr2:57293642-57293653
46	FOS	chr2:57293358-57293777	HUVEC	blood vessel:	n/a	chr2:57293642-57293653
47	FOS	chr2:57308160-57308754	HUVEC	blood vessel:	n/a	chr2:57308383-57308394
48	FOS	chr2:57293469-57293814	MCF10A-Er-Src	breast:	n/a	chr2:57293642-57293653
49	FOS	chr2:57307171-57307580	HUVEC	blood vessel:	n/a	chr2:57307387-57307398 chr2:57307389-57307397 chr2:57307358-57307369
50	FOS	chr2:57293469-57293800	MCF10A-Er-Src	breast:	n/a	chr2:57293642-57293653

No.	Distal block	Cell Line	Cell type
1	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
2	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
3	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
4	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
5	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
6	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
7	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:

Variant related genes	Relation type
ENSG00000271115	TF binding region

Extended variants
information (count: 416 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11684621	chr2:57280153-57280154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575407235	chr2:57280161-57280162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs141977239	chr2:57280180-57280181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557809662	chr2:57280194-57280195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188046347	chr2:57280233-57280234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147299580	chr2:57280250-57280251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559788608	chr2:57280254-57280255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192531410	chr2:57280264-57280265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs71416467	chr2:57280297-57280298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs13420923	chr2:57280322-57280323	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374681402	chr2:57280332-57280333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562149910	chr2:57280340-57280341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs146852135	chr2:57302013-57302014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116045654	chr2:57302070-57302071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140655729	chr2:57302086-57302087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189767800	chr2:57302095-57302096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574791131	chr2:57302098-57302099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182429374	chr2:57302100-57302101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375723935	chr2:57302118-57302119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532770373	chr2:57302133-57302134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58813007	chr2:57302150-57302151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559903503	chr2:57302157-57302158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528454943	chr2:57302165-57302166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77644448	chr2:57302189-57302190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568507208	chr2:57302211-57302212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1424640	chr2:57302220-57302221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138588605	chr2:57302245-57302246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570523702	chr2:57302276-57302277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539632942	chr2:57302287-57302288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186922307	chr2:57302293-57302294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546992614	chr2:57302313-57302314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566234856	chr2:57302314-57302315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111993503	chr2:57302332-57302333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554936261	chr2:57302366-57302367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534214823	chr2:57302375-57302376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149255721	chr2:57302399-57302400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543736267	chr2:57302427-57302428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557658102	chr2:57302434-57302435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74769133	chr2:57302461-57302462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554055435	chr2:57302469-57302470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117200209	chr2:57302498-57302499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78885865	chr2:57302510-57302511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528586044	chr2:57302531-57302532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76217848	chr2:57302559-57302560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143451030	chr2:57302579-57302580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562039875	chr2:57302630-57302631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199856710	chr2:57302682-57302683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs67482170	chr2:57302683-57302684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549745994	chr2:57302744-57302745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536673688	chr2:57302776-57302777	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:57302000-57303000	Enhancers	NHEK	skin
3	chr2:57302200-57302600	Enhancers	HMEC	breast
4	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:57306800-57307400	Enhancers	A549	lung
7	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
10	chr2:57332400-57332600	Enhancers	Liver	Liver
11	chr2:57332800-57334000	Weak transcription	Liver	Liver
12	chr2:57333600-57334600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:57334000-57335200	Enhancers	Liver	Liver
14	chr2:57334600-57334800	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links