Variant report

Variant	nsv583208
Chromosome Location	chr2:142228509-142230281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
2	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12472911	chr2:142228509-142228510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs149083610	chr2:142228513-142228514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182927582	chr2:142228518-142228519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537499682	chr2:142228531-142228532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143157087	chr2:142228539-142228540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188666221	chr2:142228560-142228561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10204964	chr2:142228566-142228567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374118757	chr2:142228575-142228576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193024032	chr2:142228582-142228583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12464897	chr2:142228672-142228673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111584588	chr2:142228706-142228707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185659093	chr2:142228769-142228770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369153160	chr2:142228772-142228773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561700131	chr2:142228807-142228808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530919372	chr2:142228819-142228820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58189454	chr2:142228838-142228839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12691610	chr2:142228839-142228840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201122343	chr2:142228844-142228845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200138374	chr2:142228847-142228848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79252041	chr2:142228848-142228849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202174441	chr2:142228850-142228851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202023467	chr2:142228851-142228852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112384143	chr2:142228852-142228853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13426176	chr2:142228853-142228854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202166871	chr2:142228857-142228858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558565681	chr2:142228895-142228896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188970633	chr2:142228945-142228946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546440437	chr2:142228953-142228954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375261914	chr2:142228954-142228955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191204707	chr2:142229000-142229001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566766788	chr2:142229001-142229002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535493038	chr2:142229013-142229014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549004981	chr2:142229034-142229035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568831949	chr2:142229063-142229064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11677045	chr2:142229073-142229074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13001716	chr2:142229102-142229103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142004475	chr2:142229103-142229104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183745366	chr2:142229122-142229123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62166279	chr2:142229125-142229126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146339340	chr2:142229143-142229144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6730292	chr2:142229150-142229151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138192962	chr2:142229207-142229208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141857648	chr2:142229249-142229250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386651242	chr2:142229277-142229278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6745352	chr2:142229279-142229280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533197656	chr2:142229293-142229294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75914971	chr2:142229311-142229312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72849042	chr2:142229389-142229390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62166280	chr2:142229404-142229405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112797746	chr2:142229411-142229412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142227000-142238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:142229200-142239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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