Variant report

Variant	nsv981086
Chromosome Location	chr6:142255278-142267809
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	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs185475961	chr6:142255316-142255317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371130942	chr6:142255337-142255338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150667175	chr6:142255346-142255347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575569191	chr6:142255393-142255394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4896562	chr6:142255407-142255408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557976963	chr6:142255424-142255425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74388283	chr6:142255432-142255433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540354954	chr6:142255448-142255449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555133508	chr6:142255461-142255462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374902383	chr6:142255462-142255463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573325571	chr6:142255465-142255466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9403357	chr6:142255499-142255500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562854241	chr6:142255514-142255515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116331441	chr6:142255599-142255600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115690329	chr6:142255600-142255601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560767033	chr6:142255615-142255616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535411431	chr6:142255627-142255628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527866948	chr6:142255642-142255643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549472794	chr6:142255693-142255694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9389956	chr6:142255697-142255698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12191856	chr6:142255702-142255703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550238707	chr6:142255714-142255715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190021847	chr6:142255725-142255726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372924857	chr6:142255789-142255790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539770083	chr6:142255790-142255791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537648351	chr6:142255836-142255837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566671996	chr6:142255856-142255857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533718918	chr6:142255888-142255889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181650159	chr6:142255913-142255914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371328893	chr6:142255926-142255927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573364208	chr6:142255983-142255984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370276674	chr6:142256043-142256044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543896322	chr6:142256093-142256094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4535569	chr6:142256101-142256102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577196064	chr6:142256124-142256125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186355579	chr6:142256150-142256151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115612357	chr6:142256153-142256154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577754192	chr6:142256190-142256191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143354107	chr6:142256192-142256193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542812097	chr6:142256195-142256196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574016766	chr6:142256202-142256203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561455519	chr6:142256205-142256206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12192180	chr6:142256257-142256258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12192083	chr6:142256265-142256266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147455830	chr6:142256311-142256312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62432015	chr6:142256313-142256314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551674189	chr6:142256332-142256333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180960321	chr6:142256416-142256417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534002451	chr6:142256500-142256501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185032523	chr6:142256572-142256573	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142253200-142261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:142261000-142261200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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