Variant report

Variant	nsv818086
Chromosome Location	chr2:141905052-141921632
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	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:
2	chr2:141913575..141915703-chr2:141918987..141921104,2	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs7583934	chr2:141905052-141905053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186243192	chr2:141905075-141905076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140766897	chr2:141905078-141905079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199901829	chr2:141905082-141905083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191486333	chr2:141905120-141905121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555651985	chr2:141905243-141905244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575908006	chr2:141905258-141905259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544535493	chr2:141905278-141905279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564506205	chr2:141905325-141905326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556358718	chr2:141905349-141905350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533203538	chr2:141905353-141905354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540226928	chr2:141905402-141905403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560249700	chr2:141905416-141905417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7586992	chr2:141905417-141905418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539982908	chr2:141905426-141905427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559601924	chr2:141905427-141905428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548788494	chr2:141905470-141905471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59691536	chr2:141905485-141905486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531643576	chr2:141905522-141905523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141477013	chr2:141905575-141905576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181506234	chr2:141905595-141905596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150820644	chr2:141905621-141905622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553780647	chr2:141905637-141905638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58860655	chr2:141905651-141905652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577778659	chr2:141905673-141905674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34487055	chr2:141906047-141906048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560088541	chr2:141906057-141906058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150061220	chr2:141906061-141906062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190692779	chr2:141906070-141906071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562706503	chr2:141906074-141906075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79093451	chr2:141906090-141906091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12691594	chr2:141906103-141906104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571478743	chr2:141906115-141906116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527554302	chr2:141906164-141906165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547429351	chr2:141906178-141906179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558171213	chr2:141906196-141906197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573479289	chr2:141906216-141906217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183193248	chr2:141906222-141906223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56825652	chr2:141906223-141906224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569726488	chr2:141906264-141906265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551431414	chr2:141906326-141906327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538092615	chr2:141906347-141906348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186394745	chr2:141906374-141906375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577940862	chr2:141906375-141906376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190705822	chr2:141906390-141906391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76551404	chr2:141906391-141906392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182947729	chr2:141906416-141906417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201447613	chr2:141906418-141906419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140187427	chr2:141906419-141906420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576460399	chr2:141906427-141906428	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141904000-141905800	Enhancers	Dnd41	blood
2	chr2:141906000-141906600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:141908200-141908800	Enhancers	Fetal Heart	heart
4	chr2:141908200-141910400	Enhancers	Liver	Liver
5	chr2:141919800-141920600	Enhancers	Hela-S3	cervix
6	chr2:141920000-141920600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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