Variant report

Variant	nsv583900
Chromosome Location	chr2:180420185-180421463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1515295	chr2:180420185-180420186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139721210	chr2:180420195-180420196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547518616	chr2:180420232-180420233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570607830	chr2:180420268-180420269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35398602	chr2:180420296-180420297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370147059	chr2:180420319-180420320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529024072	chr2:180420331-180420332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1515296	chr2:180420333-180420334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560997540	chr2:180420382-180420383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368444270	chr2:180420404-180420405	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568537269	chr2:180420438-180420439	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556752393	chr2:180420490-180420491	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371467879	chr2:180420503-180420504	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115367907	chr2:180420555-180420556	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189735771	chr2:180420584-180420585	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144491214	chr2:180420601-180420602	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529771947	chr2:180420605-180420606	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1515297	chr2:180420615-180420616	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35860816	chr2:180420717-180420718	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191347406	chr2:180420775-180420776	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs578076837	chr2:180420796-180420797	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531919862	chr2:180420811-180420812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183747214	chr2:180420844-180420845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188063304	chr2:180420855-180420856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576128245	chr2:180420859-180420860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62176083	chr2:180420881-180420882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13014600	chr2:180420962-180420963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3106717	chr2:180420976-180420977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73976407	chr2:180420984-180420985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146158235	chr2:180420990-180420991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79936638	chr2:180421049-180421050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533078031	chr2:180421139-180421140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556366713	chr2:180421160-180421161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570248471	chr2:180421177-180421178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535615651	chr2:180421190-180421191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182026164	chr2:180421288-180421289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566075999	chr2:180421333-180421334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139066819	chr2:180421381-180421382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557761738	chr2:180421418-180421419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577935741	chr2:180421460-180421461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
3	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
5	chr2:180416600-180421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:180417200-180423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:180419000-180422400	Weak transcription	Fetal Kidney	kidney
9	chr2:180419000-180422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:180420000-180420200	Enhancers	Liver	Liver
11	chr2:180420000-180422000	Enhancers	HepG2	liver
12	chr2:180420200-180420600	Weak transcription	Liver	Liver
13	chr2:180420400-180420600	Active TSS	Fetal Brain Female	brain
14	chr2:180420400-180420800	Active TSS	Right Atrium	heart
15	chr2:180420600-180420800	Enhancers	Liver	Liver
16	chr2:180420600-180420800	Flanking Active TSS	Fetal Brain Female	brain
17	chr2:180420600-180421400	Enhancers	Psoas Muscle	Psoas
18	chr2:180420600-180421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:180420600-180421600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:180420600-180422000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:180420800-180422400	Weak transcription	Liver	Liver
22	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
23	chr2:180421400-180423400	Weak transcription	Psoas Muscle	Psoas

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