Variant report

Variant	nsv550130
Chromosome Location	chr10:19512035-19540391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19497233..19499735-chr10:19518305..19520335,2	MCF-7	breast:
2	chr10:19466484..19467332-chr10:19521028..19521911,4	MCF-7	breast:
3	chr10:19510172..19510750-chr10:19521065..19522003,2	MCF-7	breast:
4	chr10:19466484..19467327-chr10:19521039..19521911,3	MCF-7	breast:
5	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:

Extended variants
information (count: 1503 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2484093	chr10:19512035-19512036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553889151	chr10:19512042-19512043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78593612	chr10:19512074-19512075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116862722	chr10:19512082-19512083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557908743	chr10:19512083-19512084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189606274	chr10:19512129-19512130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192351010	chr10:19512165-19512166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149961348	chr10:19512263-19512264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183460443	chr10:19512296-19512297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34473924	chr10:19512352-19512353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397844921	chr10:19512362-19512363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189405379	chr10:19512380-19512381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76820707	chr10:19512419-19512420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142855886	chr10:19512471-19512472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559099690	chr10:19512484-19512485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145167359	chr10:19512509-19512510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545358232	chr10:19512549-19512550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563465092	chr10:19512550-19512551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530773825	chr10:19512560-19512561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140012232	chr10:19512572-19512573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12413188	chr10:19512590-19512591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146812399	chr10:19512604-19512605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117254472	chr10:19512607-19512608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181769713	chr10:19512643-19512644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539728343	chr10:19512652-19512653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558070540	chr10:19512667-19512668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565067022	chr10:19512685-19512686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569911882	chr10:19512698-19512699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537602255	chr10:19512703-19512704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555690329	chr10:19512705-19512706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528403948	chr10:19512754-19512755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573643479	chr10:19512808-19512809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540788579	chr10:19512823-19512824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539820683	chr10:19512838-19512839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561317098	chr10:19512844-19512845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370900598	chr10:19512855-19512856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577755207	chr10:19512869-19512870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528895319	chr10:19512886-19512887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545321096	chr10:19512896-19512897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563530178	chr10:19512899-19512900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575620439	chr10:19512919-19512920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117414370	chr10:19512985-19512986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560948251	chr10:19512995-19512996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529366347	chr10:19513035-19513036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550361468	chr10:19513067-19513068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547610333	chr10:19513068-19513069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559311810	chr10:19513080-19513081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533199516	chr10:19513086-19513087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551362786	chr10:19513107-19513108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537582865	chr10:19513119-19513120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19500400-19518600	Weak transcription	Fetal Intestine Large	intestine
2	chr10:19504000-19546600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19506800-19523600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19517000-19518000	Enhancers	Fetal Heart	heart
5	chr10:19518600-19520400	Strong transcription	Fetal Intestine Large	intestine
6	chr10:19520400-19523600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:19523600-19524000	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr10:19523600-19524200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr10:19524200-19528000	Weak transcription	Fetal Intestine Small	intestine
10	chr10:19528000-19528400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr10:19535200-19535400	Enhancers	Fetal Lung	lung
12	chr10:19535400-19535600	Enhancers	Fetal Intestine Large	intestine
13	chr10:19535400-19538200	Weak transcription	Fetal Lung	lung
14	chr10:19535600-19542400	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
16	chr10:19538200-19538800	Enhancers	Fetal Lung	lung
17	chr10:19538800-19539200	Weak transcription	Fetal Lung	lung
18	chr10:19539200-19542200	Enhancers	Fetal Lung	lung
19	chr10:19539600-19540000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:19540000-19540800	Enhancers	NHLF	lung
21	chr10:19540200-19541200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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