Variant report

Variant	nsv581401
Chromosome Location	chr2:35613676-35627227
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	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
2	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71451214	chr2:35616843-35616844	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537764563	chr2:35616880-35616881	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557642347	chr2:35616920-35616921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577380776	chr2:35616942-35616943	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546073119	chr2:35616956-35616957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559848780	chr2:35616966-35616967	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573237671	chr2:35617022-35617023	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541853124	chr2:35617037-35617038	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561759614	chr2:35617088-35617089	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13418358	chr2:35617091-35617092	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs55756847	chr2:35617100-35617101	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564183951	chr2:35617102-35617103	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533193569	chr2:35617164-35617165	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78558186	chr2:35617198-35617199	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35616800-35617200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:35616800-35617200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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