Variant report

Variant	nsv948248
Chromosome Location	chr10:19465184-19468906
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	chr10:19466484..19467332-chr10:19521028..19521911,4	MCF-7	breast:
2	chr10:19466484..19467327-chr10:19521039..19521911,3	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs147849261	chr10:19465221-19465222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576351019	chr10:19465230-19465231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199705521	chr10:19465288-19465289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11443184	chr10:19465314-19465315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71491156	chr10:19465382-19465383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373770479	chr10:19465397-19465398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11008794	chr10:19465404-19465405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370005391	chr10:19465405-19465406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559943118	chr10:19465461-19465462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577644464	chr10:19465480-19465481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545123607	chr10:19465489-19465490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60445620	chr10:19465507-19465508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563257654	chr10:19465529-19465530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530399381	chr10:19465542-19465543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553350170	chr10:19465549-19465550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11595593	chr10:19465578-19465579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528414246	chr10:19465583-19465584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59814509	chr10:19465593-19465594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138148805	chr10:19465641-19465642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12240337	chr10:19465661-19465662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377445253	chr10:19465690-19465691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551823694	chr10:19465691-19465692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149581451	chr10:19465694-19465695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141400659	chr10:19465707-19465708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140446090	chr10:19465751-19465752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370152382	chr10:19465752-19465753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531300005	chr10:19465763-19465764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539001847	chr10:19465776-19465777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74468577	chr10:19465786-19465787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535356818	chr10:19465791-19465792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374381446	chr10:19465798-19465799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377754566	chr10:19465799-19465800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142796530	chr10:19465800-19465801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553277078	chr10:19465801-19465802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578098326	chr10:19465824-19465825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545296763	chr10:19465825-19465826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75319191	chr10:19465834-19465835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531835720	chr10:19465847-19465848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184418801	chr10:19465852-19465853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542210061	chr10:19465868-19465869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549814629	chr10:19465869-19465870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377328468	chr10:19465881-19465882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573443814	chr10:19465899-19465900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528352862	chr10:19465932-19465933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143298678	chr10:19465947-19465948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565053583	chr10:19465948-19465949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532285329	chr10:19465976-19465977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377122111	chr10:19465981-19465982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550510613	chr10:19466020-19466021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570154217	chr10:19466026-19466027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19438400-19489000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19457600-19475800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19458200-19465800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19465600-19465800	Enhancers	Pancreas	Pancrea
5	chr10:19465800-19468000	Enhancers	Fetal Intestine Large	intestine
6	chr10:19467000-19467400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr10:19467400-19467600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:19467600-19467800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:19467600-19468000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:19467800-19468000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr10:19468000-19468400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr10:19468000-19475800	Weak transcription	Fetal Intestine Large	intestine

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