Variant report

Variant	nsv1011626
Chromosome Location	chr2:35253193-35289777
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	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534384203	chr2:35263054-35263055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554453076	chr2:35263066-35263067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79958963	chr2:35263096-35263097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536716095	chr2:35263106-35263107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556403364	chr2:35263152-35263153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576338719	chr2:35263171-35263172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77269765	chr2:35263174-35263175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141303503	chr2:35263180-35263181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568601551	chr2:35263274-35263275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187507604	chr2:35263328-35263329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536053906	chr2:35263334-35263335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540803399	chr2:35263414-35263415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560780949	chr2:35263434-35263435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193195601	chr2:35263435-35263436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543479664	chr2:35263466-35263467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563241226	chr2:35263485-35263486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74529406	chr2:35263539-35263540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184696260	chr2:35263584-35263585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571969185	chr2:35263597-35263598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557518537	chr2:35263602-35263603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189969440	chr2:35263648-35263649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144957981	chr2:35263651-35263652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567831344	chr2:35263668-35263669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536449024	chr2:35263679-35263680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556578642	chr2:35263704-35263705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570090892	chr2:35263708-35263709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539018066	chr2:35263714-35263715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558554669	chr2:35263725-35263726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116771538	chr2:35263742-35263743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562985430	chr2:35263749-35263750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530755042	chr2:35263828-35263829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554468011	chr2:35263876-35263877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574530684	chr2:35263879-35263880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79504865	chr2:35264016-35264017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564239352	chr2:35264031-35264032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377239055	chr2:35264058-35264059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146791228	chr2:35264069-35264070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72866687	chr2:35264080-35264081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559425884	chr2:35264086-35264087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528114076	chr2:35264102-35264103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79121298	chr2:35264142-35264143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373440815	chr2:35264152-35264153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180767665	chr2:35264174-35264175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79015994	chr2:35264205-35264206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550153074	chr2:35264211-35264212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200896368	chr2:35264231-35264232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570111833	chr2:35264261-35264262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184546172	chr2:35264329-35264330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114095499	chr2:35264336-35264337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140463720	chr2:35264342-35264343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35263000-35263200	Enhancers	Esophagus	oesophagus
2	chr2:35263200-35265200	Weak transcription	Esophagus	oesophagus
3	chr2:35265200-35265400	Enhancers	Esophagus	oesophagus
4	chr2:35265400-35265600	Weak transcription	Esophagus	oesophagus

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