Variant report

Variant	nsv604832
Chromosome Location	chr6:145705474-145709371
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	chr6:145698328..145700073-chr6:145704344..145706034,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375626609	chr6:145708004-145708005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564531871	chr6:145708043-145708044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182658290	chr6:145708081-145708082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540001516	chr6:145708098-145708099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546883180	chr6:145708142-145708143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369975824	chr6:145708160-145708161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535669956	chr6:145708189-145708190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553597892	chr6:145708214-145708215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550762367	chr6:145708232-145708233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569059666	chr6:145708266-145708267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539570163	chr6:145708276-145708277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373755890	chr6:145708290-145708291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9285507	chr6:145708343-145708344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186891293	chr6:145708377-145708378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553630908	chr6:145708420-145708421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36121637	chr6:145708429-145708430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs542032859	chr6:145708435-145708436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557164955	chr6:145708486-145708487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35882108	chr6:145708498-145708499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192245988	chr6:145708629-145708630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545938775	chr6:145708632-145708633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564415122	chr6:145708644-145708645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528489146	chr6:145708668-145708669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79596154	chr6:145708671-145708672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562032168	chr6:145708688-145708689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185733614	chr6:145708740-145708741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529008718	chr6:145708798-145708799	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145708000-145708800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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