Variant report

Variant	nsv470822
Chromosome Location	chr6:65518623-65599298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:76820204..76820882-chr6:65566726..65567360,2	MCF-7	breast:
2	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
3	chr6:65519121..65521622-chr6:65533277..65535390,2	MCF-7	breast:
4	chr6:65505444..65508032-chr6:65566927..65569730,2	MCF-7	breast:
5	chr6:65595975..65598086-chr6:65600070..65602994,2	K562	blood:

Extended variants
information (count: 434 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78313814	chr6:65521050-65521051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528243774	chr6:65521081-65521082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551178640	chr6:65521082-65521083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546549422	chr6:65521180-65521181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368471536	chr6:65521194-65521195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371008308	chr6:65521244-65521245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528918420	chr6:65521247-65521248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548797914	chr6:65521292-65521293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1495535	chr6:65521298-65521299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35955002	chr6:65521314-65521315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397946184	chr6:65521328-65521329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537604456	chr6:65521360-65521361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577024331	chr6:65521392-65521393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11753113	chr6:65521398-65521399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571173960	chr6:65521426-65521427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562335256	chr6:65521441-65521442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11757912	chr6:65521475-65521476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143425375	chr6:65521508-65521509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541902130	chr6:65521597-65521598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528714522	chr6:65521617-65521618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573934297	chr6:65521629-65521630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536689660	chr6:65521649-65521650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147992021	chr6:65521670-65521671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576612436	chr6:65521680-65521681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141574629	chr6:65521685-65521686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182670512	chr6:65521704-65521705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150913887	chr6:65521752-65521753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149555723	chr6:65525604-65525605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144236958	chr6:65525701-65525702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139951144	chr6:65525738-65525739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186157236	chr6:65525790-65525791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192123366	chr6:65525794-65525795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547968119	chr6:65525886-65525887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537512728	chr6:65525901-65525902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529581967	chr6:65525927-65525928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551266378	chr6:65525932-65525933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12192067	chr6:65525962-65525963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35360505	chr6:65525988-65525989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75139813	chr6:65526000-65526001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537085774	chr6:65526006-65526007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570484643	chr6:65526011-65526012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183889302	chr6:65526019-65526020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189242381	chr6:65526045-65526046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117415143	chr6:65526053-65526054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539578314	chr6:65526078-65526079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190739701	chr6:65526137-65526138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370725739	chr6:65526138-65526139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552022131	chr6:65526139-65526140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570407706	chr6:65526148-65526149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541734000	chr6:65526185-65526186	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65521000-65521800	Enhancers	Fetal Stomach	stomach
2	chr6:65521000-65521800	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:65525600-65526000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:65525600-65526200	Enhancers	HepG2	liver
5	chr6:65532000-65532800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:65532800-65533400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:65533400-65534000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:65533600-65534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:65534000-65534200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:65543800-65544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:65570000-65571200	Enhancers	Adipose Nuclei	Adipose
12	chr6:65571200-65572200	Weak transcription	Adipose Nuclei	Adipose
13	chr6:65572200-65572400	Enhancers	Adipose Nuclei	Adipose
14	chr6:65588400-65589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:65589200-65589800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:65589800-65590000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:65597400-65598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:65598000-65598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:65598200-65598400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:65598200-65600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:65599200-65599800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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