Variant report

Variant	nsv550968
Chromosome Location	chr10:56319852-56343345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56328325-56328435	ENSG00000234173.1
2	lnc-MTRNR2L5-4	chr10:56328325-56328435	NONHSAT013457

Extended variants
information (count: 75 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1937389	chr10:56319852-56319853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182999959	chr10:56319859-56319860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560916177	chr10:56319872-56319873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577536127	chr10:56319873-56319874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543380299	chr10:56319887-56319888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556027397	chr10:56319933-56319934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573793254	chr10:56319948-56319949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181285715	chr10:56327009-56327010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138143587	chr10:56327035-56327036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529446092	chr10:56327039-56327040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs949689	chr10:56327064-56327065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559035988	chr10:56327097-56327098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186793230	chr10:56327102-56327103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs949690	chr10:56327149-56327150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565293201	chr10:56327220-56327221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540627984	chr10:56327234-56327235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536632773	chr10:56327316-56327317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111748712	chr10:56327354-56327355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550899301	chr10:56327365-56327366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143644894	chr10:56327381-56327382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150554467	chr10:56327384-56327385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139622830	chr10:56327391-56327392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113350717	chr10:56327393-56327394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550383181	chr10:56327444-56327445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535149294	chr10:56327452-56327453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10740585	chr10:56327486-56327487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578003395	chr10:56327525-56327526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191633269	chr10:56327527-56327528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550739146	chr10:56327565-56327566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11004388	chr10:56327589-56327590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563646150	chr10:56327599-56327600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182339723	chr10:56328327-56328328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs9971346	chr10:56328337-56328338	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553299076	chr10:56328427-56328428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs187016440	chr10:56328435-56328436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs12773672	chr10:56336002-56336003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1930155	chr10:56336022-56336023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574398692	chr10:56336027-56336028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555984806	chr10:56336063-56336064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142474251	chr10:56336089-56336090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553818317	chr10:56336128-56336129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1930156	chr10:56336150-56336151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545665983	chr10:56336156-56336157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562359300	chr10:56336173-56336174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115272241	chr10:56336176-56336177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151330038	chr10:56336205-56336206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561430340	chr10:56336227-56336228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559751687	chr10:56336275-56336276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558328567	chr10:56336280-56336281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1930157	chr10:56336283-56336284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Melanoma	17363583	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	chr10:56319000-56320000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:56319200-56320000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:56327000-56327600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:56336000-56336800	Enhancers	Fetal Lung	lung

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