Variant report

Variant	nsv526317
Chromosome Location	chr2:115961802-115964006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34803968	chr2:115961802-115961803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372938729	chr2:115961864-115961865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566863780	chr2:115961900-115961901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573700034	chr2:115961930-115961931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535516937	chr2:115961939-115961940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116684029	chr2:115961969-115961970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536137049	chr2:115961989-115961990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568708784	chr2:115962041-115962042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537683021	chr2:115962094-115962095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10187556	chr2:115962137-115962138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577831432	chr2:115962140-115962141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138489973	chr2:115962156-115962157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553447121	chr2:115962173-115962174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573620880	chr2:115962190-115962191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7565369	chr2:115962271-115962272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538599885	chr2:115962279-115962280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142767220	chr2:115962301-115962302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575894667	chr2:115962317-115962318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192519689	chr2:115962318-115962319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184251049	chr2:115962319-115962320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74943991	chr2:115962359-115962360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147400935	chr2:115962365-115962366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139710845	chr2:115962414-115962415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560278690	chr2:115962560-115962561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529295340	chr2:115962640-115962641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189603070	chr2:115962642-115962643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575746847	chr2:115962646-115962647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533814516	chr2:115962652-115962653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542785678	chr2:115962653-115962654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568975874	chr2:115962705-115962706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181127532	chr2:115962720-115962721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551239279	chr2:115962752-115962753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375173776	chr2:115962784-115962785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571429028	chr2:115962797-115962798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533834376	chr2:115962816-115962817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554080434	chr2:115962838-115962839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573654305	chr2:115962842-115962843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536284808	chr2:115962853-115962854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556212879	chr2:115962914-115962915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143682057	chr2:115962920-115962921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376649196	chr2:115962961-115962962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184609540	chr2:115962985-115962986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564484291	chr2:115962986-115962987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538481135	chr2:115962990-115962991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147221084	chr2:115963002-115963003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113304022	chr2:115963047-115963048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540567850	chr2:115963084-115963085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560869381	chr2:115963107-115963108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529557172	chr2:115963136-115963137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542584124	chr2:115963146-115963147	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115948200-115964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:115960600-115963400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:115963400-115963600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr2:115963600-115964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:115964000-115964600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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