Variant report

Variant	nsv550132
Chromosome Location	chr10:19541168-19567194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:
2	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
3	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
4	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
5	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
6	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
7	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:

Extended variants
information (count: 1238 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10827159	chr10:19541168-19541169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558441511	chr10:19541173-19541174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576529706	chr10:19541180-19541181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370456593	chr10:19541184-19541185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72796415	chr10:19541185-19541186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149433114	chr10:19541188-19541189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72796416	chr10:19541190-19541191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541022900	chr10:19541215-19541216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559039087	chr10:19541225-19541226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143008409	chr10:19541226-19541227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148198971	chr10:19541239-19541240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184414478	chr10:19541244-19541245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543057260	chr10:19541250-19541251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530598633	chr10:19541252-19541253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555093719	chr10:19541256-19541257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548802575	chr10:19541337-19541338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142711842	chr10:19541342-19541343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374333132	chr10:19541351-19541352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576635852	chr10:19541399-19541400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147373801	chr10:19541413-19541414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11009135	chr10:19541418-19541419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547874426	chr10:19541458-19541459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565037169	chr10:19541524-19541525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565898668	chr10:19541589-19541590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539841292	chr10:19541638-19541639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558142786	chr10:19541685-19541686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11009137	chr10:19541718-19541719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78476360	chr10:19541789-19541790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532343729	chr10:19541898-19541899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556043040	chr10:19541926-19541927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73593859	chr10:19541958-19541959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11009138	chr10:19541970-19541971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553049244	chr10:19541971-19541972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577537923	chr10:19542002-19542003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559645132	chr10:19542032-19542033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150049288	chr10:19542043-19542044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143582150	chr10:19542077-19542078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374407461	chr10:19542118-19542119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530757694	chr10:19542175-19542176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542412156	chr10:19542192-19542193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368317178	chr10:19542221-19542222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568005988	chr10:19542248-19542249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370374060	chr10:19542352-19542353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367606998	chr10:19542405-19542406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528283660	chr10:19542420-19542421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547544637	chr10:19542421-19542422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529648341	chr10:19542449-19542450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533155113	chr10:19542475-19542476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551793018	chr10:19542492-19542493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372331073	chr10:19542525-19542526	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19504000-19546600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19535600-19542400	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19539200-19542200	Enhancers	Fetal Lung	lung
5	chr10:19540200-19541200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:19541000-19541400	Enhancers	Fetal Kidney	kidney
7	chr10:19542400-19543000	Strong transcription	Fetal Intestine Large	intestine
8	chr10:19543000-19547200	Weak transcription	Fetal Intestine Large	intestine
9	chr10:19545400-19546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:19546600-19548000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr10:19547000-19549800	Weak transcription	HepG2	liver
12	chr10:19547200-19548600	Strong transcription	Fetal Intestine Large	intestine
13	chr10:19548000-19558200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19558200-19560200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr10:19559600-19560000	Enhancers	Fetal Brain Male	brain
17	chr10:19560200-19561400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:19561400-19561800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr10:19561800-19572200	Weak transcription	Duodenum Mucosa	Duodenum

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