Variant report

Variant	nsv821835
Chromosome Location	chr2:181695124-181704766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E3-4	chr2:181696809-181696952	ucscGeneNc_uc002uns_1

Extended variants
information (count: 49 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7590308	chr2:181696810-181696811	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10183078	chr2:181696815-181696816	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535446360	chr2:181696841-181696842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549058445	chr2:181696854-181696855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs10183096	chr2:181696869-181696870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183846360	chr2:181696905-181696906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557645531	chr2:181696909-181696910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs11892044	chr2:181696926-181696927	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536765424	chr2:181696936-181696937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs374239827	chr2:181696941-181696942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374692583	chr2:181704041-181704042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367834746	chr2:181704053-181704054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371675738	chr2:181704090-181704091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572515528	chr2:181704100-181704101	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6761806	chr2:181704111-181704112	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6433862	chr2:181704132-181704133	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6761817	chr2:181704152-181704153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571639299	chr2:181704170-181704171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537445553	chr2:181704186-181704187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551054138	chr2:181704211-181704212	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567750498	chr2:181704212-181704213	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536389670	chr2:181704223-181704224	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58223344	chr2:181704230-181704231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573390016	chr2:181704245-181704246	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539293773	chr2:181704250-181704251	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369868277	chr2:181704256-181704257	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558829210	chr2:181704315-181704316	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189749287	chr2:181704352-181704353	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543799319	chr2:181704357-181704358	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181306157	chr2:181704385-181704386	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74628700	chr2:181704397-181704398	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189912677	chr2:181704449-181704450	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560261350	chr2:181704485-181704486	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532228216	chr2:181704513-181704514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546072348	chr2:181704529-181704530	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562780471	chr2:181704552-181704553	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563675992	chr2:181704565-181704566	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77517901	chr2:181704570-181704571	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550988671	chr2:181704599-181704600	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545935506	chr2:181704616-181704617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs114650902	chr2:181704621-181704622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528243477	chr2:181704638-181704639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs71425685	chr2:181704665-181704666	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10168493	chr2:181704684-181704685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149900025	chr2:181704727-181704728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567009241	chr2:181704737-181704738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111419912	chr2:181704754-181704755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182239927	chr2:181704756-181704757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558768960	chr2:181704760-181704761	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181704000-181704600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:181704000-181704800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:181704200-181704600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:181704400-181704800	Active TSS	K562	blood

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