Variant report

Variant	nsv961361
Chromosome Location	chr2:180530964-180534513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557823861	chr2:180531804-180531805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561009061	chr2:180531869-180531870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11897834	chr2:180531934-180531935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565179350	chr2:180531950-180531951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192471317	chr2:180531978-180531979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540956140	chr2:180531980-180531981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560232603	chr2:180531997-180531998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150259396	chr2:180532049-180532050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183249970	chr2:180532079-180532080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569443575	chr2:180532107-180532108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542391894	chr2:180532130-180532131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532061504	chr2:180532147-180532148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548937371	chr2:180532163-180532164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386653185	chr2:180532170-180532171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114911013	chr2:180532171-180532172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16866901	chr2:180532226-180532227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs16866903	chr2:180532277-180532278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115446729	chr2:180532288-180532289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558352843	chr2:180532341-180532342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187528549	chr2:180532387-180532388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3106721	chr2:180532415-180532416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554893876	chr2:180532460-180532461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79920451	chr2:180532493-180532494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398090900	chr2:180532494-180532495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573130105	chr2:180532609-180532610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565087989	chr2:180532669-180532670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192052160	chr2:180532675-180532676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141903790	chr2:180532688-180532689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58946184	chr2:180532727-180532728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375176636	chr2:180532729-180532730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77366278	chr2:180532763-180532764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545876961	chr2:180532768-180532769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562556990	chr2:180532834-180532835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111345249	chr2:180532850-180532851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531973052	chr2:180532887-180532888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7581866	chr2:180533005-180533006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568779035	chr2:180533008-180533009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184239839	chr2:180533014-180533015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547773023	chr2:180533042-180533043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145767497	chr2:180533082-180533083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551520607	chr2:180533192-180533193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188410825	chr2:180533199-180533200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115537858	chr2:180533211-180533212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200763831	chr2:180533270-180533271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397827444	chr2:180533273-180533274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569810031	chr2:180533288-180533289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138684197	chr2:180533315-180533316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570376556	chr2:180533348-180533349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374187419	chr2:180533349-180533350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201213092	chr2:180533350-180533351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180531800-180536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180533800-180534200	Enhancers	Fetal Intestine Small	intestine
3	chr2:180533800-180534800	Enhancers	Fetal Intestine Large	intestine

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