Variant report

Variant	nsv437678
Chromosome Location	chr10:55438490-55449214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs825805	chr10:55438490-55438491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572907825	chr10:55438645-55438646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs825806	chr10:55438682-55438683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540922785	chr10:55438685-55438686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35167625	chr10:55438706-55438707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559917640	chr10:55438785-55438786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17697085	chr10:55438823-55438824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115093226	chr10:55438848-55438849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562559865	chr10:55438865-55438866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144829074	chr10:55438960-55438961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186198000	chr10:55442207-55442208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141444782	chr10:55442245-55442246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575906655	chr10:55442254-55442255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528775016	chr10:55442417-55442418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538477460	chr10:55442471-55442472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189261396	chr10:55442477-55442478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563698524	chr10:55442481-55442482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111424928	chr10:55442482-55442483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532660804	chr10:55442515-55442516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114124006	chr10:55442523-55442524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139013065	chr10:55442524-55442525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558462970	chr10:55442565-55442566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112598988	chr10:55442581-55442582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181163335	chr10:55442603-55442604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80192156	chr10:55442648-55442649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369921049	chr10:55442660-55442661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115933239	chr10:55442672-55442673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540770496	chr10:55442698-55442699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74134736	chr10:55442699-55442700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145617086	chr10:55442710-55442711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563410345	chr10:55442752-55442753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573897818	chr10:55442755-55442756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74134737	chr10:55442813-55442814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559896171	chr10:55442865-55442866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574365607	chr10:55442907-55442908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114736333	chr10:55442943-55442944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78393129	chr10:55442949-55442950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373459398	chr10:55442954-55442955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564746015	chr10:55442959-55442960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563203168	chr10:55442974-55442975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141876193	chr10:55442998-55442999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567330456	chr10:55443024-55443025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570069180	chr10:55443029-55443030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11003762	chr10:55443067-55443068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546523955	chr10:55443081-55443082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566637489	chr10:55443096-55443097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199601719	chr10:55443105-55443106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386743871	chr10:55443107-55443108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538590742	chr10:55443109-55443110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558779821	chr10:55443196-55443197	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Melanoma	17363583	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55437800-55438600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:55437800-55439000	Enhancers	Fetal Lung	lung
3	chr10:55438200-55438600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr10:55442200-55443400	Enhancers	Fetal Brain Male	brain
5	chr10:55442400-55442800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:55449200-55449600	Enhancers	Right Atrium	heart

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