Variant report

Variant	nsv462976
Chromosome Location	chr6:65529577-65585411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
2	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
3	chr3:76820204..76820882-chr6:65566726..65567360,2	MCF-7	breast:

Extended variants
information (count: 243 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114325549	chr6:65532021-65532022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115530205	chr6:65532025-65532026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575263635	chr6:65532026-65532027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375470062	chr6:65532041-65532042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544371794	chr6:65532044-65532045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564651323	chr6:65532078-65532079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578076110	chr6:65532093-65532094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529272164	chr6:65532133-65532134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183637453	chr6:65532143-65532144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188297913	chr6:65532184-65532185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191604255	chr6:65532249-65532250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142222949	chr6:65532296-65532297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184707019	chr6:65532339-65532340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561654773	chr6:65532365-65532366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530566951	chr6:65532370-65532371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142137739	chr6:65532372-65532373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189975899	chr6:65532394-65532395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181627351	chr6:65532397-65532398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546787517	chr6:65532426-65532427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566400670	chr6:65532476-65532477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535341699	chr6:65532478-65532479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147764984	chr6:65532499-65532500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536792101	chr6:65532509-65532510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376779088	chr6:65532512-65532513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201012275	chr6:65532528-65532529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368790430	chr6:65532582-65532583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538242132	chr6:65532648-65532649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557931285	chr6:65532680-65532681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578061514	chr6:65532715-65532716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540446273	chr6:65532737-65532738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369126253	chr6:65532742-65532743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560648459	chr6:65532760-65532761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561958565	chr6:65532764-65532765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574321344	chr6:65532793-65532794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543332747	chr6:65532809-65532810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76702528	chr6:65532816-65532817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534677256	chr6:65532817-65532818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530376915	chr6:65532859-65532860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141160182	chr6:65532887-65532888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563991123	chr6:65532915-65532916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28639803	chr6:65532919-65532920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546316592	chr6:65532938-65532939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566313397	chr6:65532946-65532947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34714059	chr6:65533004-65533005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548819279	chr6:65533025-65533026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10498828	chr6:65533066-65533067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs118150295	chr6:65533067-65533068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17486740	chr6:65533078-65533079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571583411	chr6:65533098-65533099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147950139	chr6:65533133-65533134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65532000-65532800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:65532800-65533400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:65533400-65534000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:65533600-65534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:65534000-65534200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:65543800-65544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:65570000-65571200	Enhancers	Adipose Nuclei	Adipose
8	chr6:65571200-65572200	Weak transcription	Adipose Nuclei	Adipose
9	chr6:65572200-65572400	Enhancers	Adipose Nuclei	Adipose

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