Variant report

Variant	nsv962044
Chromosome Location	chr2:187950103-187964615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187950499..187953541-chr2:187954538..187958392,4	K562	blood:
2	chr2:187957403..187959802-chr2:187965098..187967313,2	K562	blood:
3	chr2:187950499..187953541-chr2:187954538..187958392,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5837014	chr2:187957209-187957210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369293289	chr2:187957211-187957212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202146525	chr2:187957212-187957213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368088418	chr2:187957213-187957214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201201264	chr2:187957215-187957216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13024632	chr2:187957266-187957267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536392628	chr2:187957316-187957317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373997429	chr2:187957349-187957350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573949642	chr2:187957364-187957365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554532221	chr2:187957368-187957369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569577060	chr2:187957380-187957381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573246744	chr2:187959642-187959643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181058263	chr2:187959664-187959665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113076676	chr2:187959763-187959764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553263431	chr2:187959823-187959824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574680097	chr2:187959851-187959852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541657496	chr2:187959857-187959858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563541101	chr2:187959873-187959874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149123599	chr2:187959874-187959875	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182947194	chr2:187959905-187959906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71432484	chr2:187959914-187959915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376711646	chr2:187959943-187959944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113489043	chr2:187959961-187959962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs16828613	chr2:187959963-187959964	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187957200-187957400	Enhancers	Fetal Lung	lung
2	chr2:187959600-187960000	Active TSS	HUVEC	blood vessel

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