Variant report

Variant	nsv969331
Chromosome Location	chr6:142159986-142166256
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	chr6:142160258..142163197-chr6:142168438..142170373,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73585738	chr6:142164203-142164204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147076049	chr6:142164233-142164234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573504389	chr6:142164239-142164240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376382920	chr6:142164249-142164250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192357264	chr6:142164255-142164256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554345395	chr6:142164261-142164262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556241277	chr6:142164348-142164349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369306149	chr6:142164349-142164350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184348112	chr6:142164372-142164373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35639184	chr6:142164393-142164394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34012535	chr6:142164422-142164423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9496163	chr6:142164431-142164432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189710114	chr6:142164470-142164471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74775387	chr6:142164473-142164474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115148162	chr6:142164489-142164490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561425215	chr6:142164504-142164505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543593948	chr6:142164505-142164506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9496164	chr6:142164538-142164539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571740037	chr6:142164656-142164657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537460972	chr6:142164695-142164696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138277088	chr6:142164715-142164716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566651390	chr6:142164727-142164728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569890437	chr6:142164806-142164807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533791428	chr6:142164935-142164936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368513473	chr6:142164936-142164937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555253430	chr6:142164938-142164939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535747973	chr6:142164963-142164964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149637745	chr6:142164992-142164993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9484564	chr6:142165050-142165051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555965924	chr6:142165052-142165053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181241057	chr6:142165097-142165098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184477936	chr6:142165110-142165111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553678331	chr6:142165142-142165143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572078046	chr6:142165155-142165156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116490537	chr6:142165156-142165157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148710980	chr6:142165178-142165179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576686616	chr6:142165200-142165201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188933703	chr6:142165201-142165202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565224694	chr6:142165312-142165313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373197548	chr6:142165374-142165375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181381921	chr6:142165440-142165441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547578825	chr6:142165494-142165495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559283606	chr6:142165512-142165513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530052600	chr6:142165552-142165553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548839328	chr6:142165564-142165565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374657506	chr6:142165568-142165569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372759136	chr6:142165610-142165611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138042637	chr6:142165621-142165622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397968587	chr6:142165626-142165627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141985180	chr6:142165686-142165687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	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
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142164200-142167000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:142166000-142166200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr6:142166200-142166400	Enhancers	Primary T helper cells PMA-I stimulated	--

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