Variant report

Variant	nsv963896
Chromosome Location	chr2:116003996-116008489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548767018	chr2:116004050-116004051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552978308	chr2:116004058-116004059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77897689	chr2:116004090-116004091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75239879	chr2:116004099-116004100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116307623	chr2:116004137-116004138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575352599	chr2:116004153-116004154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544099482	chr2:116004163-116004164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558051865	chr2:116004170-116004171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59324848	chr2:116004172-116004173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578022901	chr2:116004212-116004213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187210939	chr2:116004220-116004221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560234399	chr2:116004221-116004222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528969168	chr2:116004281-116004282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542666524	chr2:116004314-116004315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149787921	chr2:116004315-116004316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113405581	chr2:116004330-116004331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568328626	chr2:116004340-116004341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535742743	chr2:116004359-116004360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4399739	chr2:116004374-116004375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533492212	chr2:116004408-116004409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191667704	chr2:116004438-116004439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112407670	chr2:116004461-116004462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565892823	chr2:116004538-116004539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535487556	chr2:116004562-116004563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17452993	chr2:116004581-116004582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569269501	chr2:116004639-116004640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148962047	chr2:116004680-116004681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570805319	chr2:116004728-116004729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557539539	chr2:116004743-116004744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570111038	chr2:116004779-116004780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530646889	chr2:116004780-116004781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184622142	chr2:116004900-116004901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552276844	chr2:116004919-116004920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188775619	chr2:116005033-116005034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192872840	chr2:116005053-116005054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539484822	chr2:116005063-116005064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185873843	chr2:116005115-116005116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562568122	chr2:116005116-116005117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536777934	chr2:116005129-116005130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531335712	chr2:116005140-116005141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371169112	chr2:116005144-116005145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544400735	chr2:116005241-116005242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113121398	chr2:116005244-116005245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533359227	chr2:116005294-116005295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546845643	chr2:116005321-116005322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76037198	chr2:116005326-116005327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529255258	chr2:116005331-116005332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549145257	chr2:116005345-116005346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569310755	chr2:116005361-116005362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538387494	chr2:116005380-116005381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115996000-116007400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:116007400-116008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116008000-116013600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:116008400-116008800	Enhancers	Fetal Lung	lung

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