Variant report

Variant	nsv961498
Chromosome Location	chr2:116224645-116226323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539580908	chr2:116224680-116224681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545631390	chr2:116224750-116224751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115857876	chr2:116224769-116224770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528388224	chr2:116224794-116224795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182073667	chr2:116224827-116224828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199598856	chr2:116224829-116224830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369636221	chr2:116224844-116224845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186608195	chr2:116224845-116224846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376723098	chr2:116224876-116224877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570761288	chr2:116224888-116224889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554550663	chr2:116224891-116224892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149500096	chr2:116224908-116224909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556633553	chr2:116224909-116224910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190921228	chr2:116224916-116224917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181724594	chr2:116224933-116224934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566095853	chr2:116224991-116224992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs843438	chr2:116224999-116225000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143134289	chr2:116225023-116225024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577083697	chr2:116225058-116225059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568714493	chr2:116225085-116225086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537094164	chr2:116225096-116225097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556923758	chr2:116225108-116225109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376452589	chr2:116225130-116225131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576931825	chr2:116225139-116225140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189668429	chr2:116225189-116225190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377035046	chr2:116225209-116225210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35471472	chr2:116225210-116225211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75839480	chr2:116225218-116225219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148271737	chr2:116225219-116225220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541994753	chr2:116225290-116225291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561864506	chr2:116225299-116225300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs843439	chr2:116225340-116225341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544265949	chr2:116225343-116225344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564031588	chr2:116225433-116225434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141382379	chr2:116225441-116225442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147240661	chr2:116225486-116225487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140738798	chr2:116225555-116225556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528706695	chr2:116225581-116225582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548760166	chr2:116225605-116225606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377355875	chr2:116225614-116225615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183138642	chr2:116225625-116225626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554300421	chr2:116225642-116225643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143022635	chr2:116225646-116225647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535585477	chr2:116225670-116225671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537304563	chr2:116225710-116225711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369726688	chr2:116225719-116225720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574430654	chr2:116225768-116225769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550563016	chr2:116225775-116225776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147474316	chr2:116225778-116225779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188171956	chr2:116225810-116225811	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
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116219800-116232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:116224400-116232200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116224600-116229400	Weak transcription	Fetal Intestine Large	intestine

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