Variant report

Variant	nsv516160
Chromosome Location	chr10:56158812-56163201
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	chr10:55757420..55758328-chr10:56162156..56162806,2	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10825321	chr10:56158812-56158813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111535063	chr10:56158822-56158823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372785496	chr10:56158840-56158841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73251624	chr10:56158906-56158907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548393175	chr10:56158952-56158953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187056712	chr10:56158963-56158964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541286333	chr10:56158991-56158992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564276254	chr10:56159002-56159003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73251625	chr10:56159010-56159011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568510456	chr10:56159031-56159032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191862717	chr10:56159033-56159034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11004276	chr10:56159059-56159060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs16906069	chr10:56159128-56159129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73251629	chr10:56159156-56159157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184461302	chr10:56159177-56159178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566592582	chr10:56159205-56159206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115481322	chr10:56159222-56159223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547734021	chr10:56159293-56159294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570797255	chr10:56159295-56159296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539681501	chr10:56159309-56159310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189270266	chr10:56159343-56159344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16915135	chr10:56159346-56159347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74136139	chr10:56159361-56159362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555078462	chr10:56159384-56159385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181742330	chr10:56159426-56159427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533673733	chr10:56159463-56159464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185535414	chr10:56159506-56159507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577982626	chr10:56159508-56159509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73251630	chr10:56159514-56159515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563461794	chr10:56159530-56159531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531719994	chr10:56159532-56159533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375989580	chr10:56159533-56159534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148823432	chr10:56159538-56159539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143519311	chr10:56159602-56159603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114910633	chr10:56159616-56159617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375182405	chr10:56159636-56159637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190456692	chr10:56159682-56159683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550124711	chr10:56159691-56159692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570193049	chr10:56159702-56159703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535203341	chr10:56159711-56159712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148003631	chr10:56159791-56159792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111677093	chr10:56159801-56159802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6481094	chr10:56159811-56159812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578010251	chr10:56159812-56159813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537300930	chr10:56159852-56159853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180778576	chr10:56159862-56159863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186070254	chr10:56159863-56159864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573823563	chr10:56159878-56159879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12774115	chr10:56159947-56159948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556542654	chr10:56159955-56159956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56156800-56160600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:56157200-56162200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr10:56160600-56161000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:56162200-56162400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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