Variant report

Variant	nsv970314
Chromosome Location	chr6:62727719-62735125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 278 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537761523	chr6:62727802-62727803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71568781	chr6:62727843-62727844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569027639	chr6:62727857-62727858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532936667	chr6:62727862-62727863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564039995	chr6:62727866-62727867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566394240	chr6:62727874-62727875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556107562	chr6:62727881-62727882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147670250	chr6:62727883-62727884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552928844	chr6:62727890-62727891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568150947	chr6:62727922-62727923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535935553	chr6:62728017-62728018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557221005	chr6:62728027-62728028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575699124	chr6:62728040-62728041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535900618	chr6:62728054-62728055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142318059	chr6:62728070-62728071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558400968	chr6:62728083-62728084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554021716	chr6:62728109-62728110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540959513	chr6:62728176-62728177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66743057	chr6:62728205-62728206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9453938	chr6:62728206-62728207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200234814	chr6:62728220-62728221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67084706	chr6:62728230-62728231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185260996	chr6:62728238-62728239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57360690	chr6:62728242-62728243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200773029	chr6:62728243-62728244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555156445	chr6:62728250-62728251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561656952	chr6:62728289-62728290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143315215	chr6:62728347-62728348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544195665	chr6:62728354-62728355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572579777	chr6:62728355-62728356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546456270	chr6:62728362-62728363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562402660	chr6:62728393-62728394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533063712	chr6:62728395-62728396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551257604	chr6:62728452-62728453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564688943	chr6:62728468-62728469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566357464	chr6:62728489-62728490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576782457	chr6:62728496-62728497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527566673	chr6:62728527-62728528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201489426	chr6:62728529-62728530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189291659	chr6:62728541-62728542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181744544	chr6:62728560-62728561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535436814	chr6:62728588-62728589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148322985	chr6:62728609-62728610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569221387	chr6:62728619-62728620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186265212	chr6:62728638-62728639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575054601	chr6:62728650-62728651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34324402	chr6:62728684-62728685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562300145	chr6:62728685-62728686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191720001	chr6:62728724-62728725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534490497	chr6:62728758-62728759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62724400-62749400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62732600-62733000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:62733000-62737200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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