Variant report

Variant	nsv975020
Chromosome Location	chr10:56914700-56925876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 405 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2799577	chr10:56914711-56914712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546502916	chr10:56914713-56914714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566100736	chr10:56914726-56914727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538653759	chr10:56914727-56914728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2589439	chr10:56914749-56914750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565846617	chr10:56914753-56914754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188090615	chr10:56914802-56914803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2589440	chr10:56914834-56914835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11004758	chr10:56914849-56914850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78653883	chr10:56914856-56914857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543310495	chr10:56914892-56914893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191630209	chr10:56914954-56914955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148498569	chr10:56915041-56915042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573134765	chr10:56915051-56915052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184514043	chr10:56915095-56915096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374174192	chr10:56915124-56915125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545419530	chr10:56915154-56915155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10825476	chr10:56915165-56915166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187302101	chr10:56915195-56915196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369343866	chr10:56915227-56915228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372267025	chr10:56915248-56915249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66526151	chr10:56915249-56915250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2680323	chr10:56915275-56915276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544386044	chr10:56915289-56915290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2680322	chr10:56915297-56915298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4570493	chr10:56915309-56915310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141118296	chr10:56915332-56915333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535585981	chr10:56915341-56915342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192649098	chr10:56915343-56915344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552196670	chr10:56915345-56915346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2254689	chr10:56915359-56915360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185559877	chr10:56915361-56915362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367840406	chr10:56915377-56915378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2589441	chr10:56915452-56915453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2891558	chr10:56915486-56915487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2254687	chr10:56915523-56915524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2254685	chr10:56915531-56915532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs57145148	chr10:56915546-56915547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538654967	chr10:56915552-56915553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71461281	chr10:56915585-56915586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558867713	chr10:56915586-56915587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199905660	chr10:56915587-56915588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575561557	chr10:56915589-56915590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369257338	chr10:56915666-56915667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544270404	chr10:56915667-56915668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117237133	chr10:56915748-56915749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1838450	chr10:56915755-56915756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540074845	chr10:56915784-56915785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189263433	chr10:56915788-56915789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1838451	chr10:56915791-56915792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56914400-56915000	Enhancers	Fetal Heart	heart
2	chr10:56915000-56918200	Weak transcription	Fetal Heart	heart
3	chr10:56918200-56919000	Enhancers	Fetal Heart	heart
4	chr10:56918400-56918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:56918400-56918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr10:56918800-56920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:56920000-56920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:56920000-56920800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:56920000-56921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:56920200-56920800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:56920200-56921400	Enhancers	HMEC	breast
12	chr10:56920400-56921200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:56920400-56921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:56920600-56920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:56920600-56921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:56920800-56922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:56921200-56921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:56921600-56922800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:56922200-56922400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr10:56922400-56922600	Enhancers	HUES6 Cell Line	embryonic stem cell

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