Variant report

Variant	nsv523495
Chromosome Location	chr2:56993390-57010309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56997703..56999296-chr2:57011926..57014412,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140686	chr2:56993390-56993391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62163430	chr2:56993447-56993448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149036316	chr2:56993472-56993473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566308156	chr2:56993490-56993491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4140687	chr2:56993497-56993498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143004223	chr2:56993518-56993519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184238033	chr2:56993536-56993537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188814718	chr2:56993551-56993552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113298245	chr2:56993614-56993615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181710397	chr2:56993641-56993642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140367813	chr2:56993643-56993644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545942576	chr2:56993647-56993648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536762246	chr2:56993673-56993674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376591262	chr2:56993677-56993678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369852346	chr2:56993727-56993728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553172637	chr2:56993729-56993730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573030440	chr2:56993736-56993737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541628462	chr2:56993747-56993748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562035850	chr2:56993799-56993800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187129088	chr2:56993800-56993801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544234184	chr2:56993801-56993802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564109372	chr2:56993830-56993831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146993162	chr2:56993831-56993832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6724469	chr2:56993863-56993864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566429551	chr2:56993864-56993865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528707391	chr2:56993918-56993919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190222137	chr2:56993923-56993924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549962852	chr2:56993929-56993930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569046021	chr2:56993930-56993931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569124929	chr2:56993972-56993973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138092459	chr2:56993974-56993975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182399130	chr2:56993986-56993987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570541401	chr2:56994014-56994015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535465549	chr2:56994027-56994028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11125651	chr2:56994039-56994040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553451616	chr2:56994127-56994128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539731066	chr2:56994139-56994140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377746202	chr2:56994147-56994148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542008841	chr2:56994175-56994176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555558921	chr2:56994247-56994248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184958395	chr2:56994271-56994272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375379328	chr2:56994301-56994302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80150973	chr2:56994377-56994378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189767713	chr2:56994391-56994392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10175921	chr2:56994455-56994456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147270073	chr2:56994468-56994469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138764099	chr2:56994480-56994481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528941776	chr2:56994521-56994522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549053801	chr2:56994562-56994563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182305901	chr2:56994563-56994564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56992200-56996000	Weak transcription	Liver	Liver
2	chr2:56996000-56996600	Enhancers	Liver	Liver
3	chr2:56997400-56997800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links