Variant report

Variant	nsv603354
Chromosome Location	chr6:63575271-63598671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1376 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9443173	chr6:63575271-63575272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114934665	chr6:63575299-63575300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543762300	chr6:63575300-63575301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565119064	chr6:63575306-63575307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377663246	chr6:63575317-63575318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36050366	chr6:63575369-63575370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541321345	chr6:63575371-63575372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559559940	chr6:63575426-63575427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139744635	chr6:63575433-63575434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576563467	chr6:63575444-63575445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541529030	chr6:63575448-63575449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185685261	chr6:63575459-63575460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373526347	chr6:63575477-63575478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530440278	chr6:63575492-63575493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377488917	chr6:63575511-63575512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552188417	chr6:63575581-63575582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539124011	chr6:63575593-63575594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76976465	chr6:63575603-63575604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188390885	chr6:63575631-63575632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546909350	chr6:63575663-63575664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531098671	chr6:63575693-63575694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535614764	chr6:63575736-63575737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554778024	chr6:63575742-63575743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570162765	chr6:63575770-63575771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200729079	chr6:63575772-63575773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73499305	chr6:63575780-63575781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558955866	chr6:63575783-63575784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561504623	chr6:63575825-63575826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180828492	chr6:63575830-63575831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371288562	chr6:63575831-63575832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553205111	chr6:63575839-63575840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529017866	chr6:63575842-63575843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574715415	chr6:63575860-63575861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542375800	chr6:63575876-63575877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144225423	chr6:63575886-63575887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553336415	chr6:63575917-63575918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369740820	chr6:63575933-63575934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545579872	chr6:63575935-63575936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187268662	chr6:63575955-63575956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192099467	chr6:63575976-63575977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55851245	chr6:63576005-63576006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565904267	chr6:63576018-63576019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148754528	chr6:63576038-63576039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142340909	chr6:63576049-63576050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542018244	chr6:63576060-63576061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151261815	chr6:63576068-63576069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117538901	chr6:63576072-63576073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537591776	chr6:63576117-63576118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558739771	chr6:63576118-63576119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570516597	chr6:63576126-63576127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63572600-63579600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63579600-63582400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63582400-63589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63589200-63591800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63591800-63596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63594000-63595200	Enhancers	A549	lung
7	chr6:63595200-63599200	Weak transcription	A549	lung
8	chr6:63596800-63597800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:63597800-63598200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:63598200-63603800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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