Variant report

Variant	nsv528037
Chromosome Location	chr2:133772581-133774453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12988086	chr2:133772581-133772582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142247416	chr2:133772588-133772589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386650735	chr2:133772628-133772629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6705102	chr2:133772629-133772630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34545050	chr2:133772630-133772631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562912861	chr2:133772662-133772663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530542329	chr2:133772671-133772672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552278582	chr2:133772700-133772701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570438792	chr2:133772708-133772709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567897687	chr2:133772751-133772752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375383249	chr2:133772758-133772759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531816920	chr2:133772778-133772779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551710933	chr2:133772814-133772815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151226343	chr2:133772837-133772838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546473320	chr2:133772880-133772881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377719497	chr2:133772887-133772888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568365513	chr2:133772889-133772890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571862566	chr2:133772899-133772900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539017706	chr2:133772914-133772915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555017929	chr2:133772926-133772927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11347448	chr2:133772933-133772934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398080612	chr2:133772941-133772942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397712701	chr2:133772942-133772943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201513308	chr2:133772944-133772945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566212613	chr2:133772972-133772973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377191008	chr2:133772973-133772974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570036261	chr2:133772982-133772983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537027598	chr2:133773010-133773011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559041447	chr2:133773034-133773035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111593538	chr2:133773065-133773066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533678355	chr2:133773144-133773145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188817869	chr2:133773167-133773168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76048682	chr2:133773198-133773199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574810674	chr2:133773203-133773204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140385194	chr2:133773230-133773231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563620006	chr2:133773231-133773232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192921618	chr2:133773242-133773243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545473885	chr2:133773257-133773258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564252887	chr2:133773262-133773263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528127241	chr2:133773294-133773295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546781380	chr2:133773307-133773308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568226682	chr2:133773320-133773321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529222964	chr2:133773437-133773438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183864089	chr2:133773458-133773459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569155595	chr2:133773469-133773470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145260156	chr2:133773493-133773494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370233307	chr2:133773501-133773502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7572742	chr2:133773502-133773503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554869217	chr2:133773585-133773586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36063397	chr2:133773617-133773618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133759800-133784400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:133762600-133797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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