Variant report

Variant	nsv430134
Chromosome Location	chr10:19516264-19540394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1294 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4351724	chr10:19516264-19516265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74118881	chr10:19516273-19516274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12247476	chr10:19516287-19516288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553931053	chr10:19516297-19516298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74118882	chr10:19516298-19516299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12256606	chr10:19516326-19516327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149187876	chr10:19516431-19516432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568877025	chr10:19516440-19516441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78506508	chr10:19516463-19516464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111954693	chr10:19516493-19516494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543369886	chr10:19516500-19516501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370780662	chr10:19516517-19516518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539454477	chr10:19516538-19516539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181734338	chr10:19516544-19516545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529653132	chr10:19516588-19516589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186860633	chr10:19516612-19516613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73593851	chr10:19516668-19516669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375067844	chr10:19516679-19516680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374379616	chr10:19516684-19516685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142426247	chr10:19516698-19516699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10827092	chr10:19516713-19516714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555572980	chr10:19516743-19516744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564572606	chr10:19516775-19516776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189652549	chr10:19516782-19516783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573834063	chr10:19516793-19516794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538116196	chr10:19516797-19516798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11009019	chr10:19516807-19516808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76300710	chr10:19516849-19516850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181210683	chr10:19516858-19516859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547730370	chr10:19516859-19516860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566037275	chr10:19516869-19516870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185433372	chr10:19516877-19516878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558083444	chr10:19516897-19516898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576058092	chr10:19516924-19516925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545027112	chr10:19516947-19516948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546659223	chr10:19516950-19516951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189846254	chr10:19516960-19516961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571640312	chr10:19516998-19516999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183530970	chr10:19517004-19517005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555324178	chr10:19517030-19517031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186457092	chr10:19517033-19517034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139283168	chr10:19517050-19517051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549744266	chr10:19517054-19517055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559637883	chr10:19517056-19517057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578012094	chr10:19517060-19517061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560288420	chr10:19517069-19517070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116715174	chr10:19517085-19517086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147956305	chr10:19517095-19517096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368751496	chr10:19517128-19517129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368769470	chr10:19517147-19517148	Weak transcription Enhancers	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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