Variant report

Variant	nsv818457
Chromosome Location	chr6:133899539-133905744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:256 , 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	rs2327350	chr6:133899539-133899540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568453348	chr6:133899540-133899541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368183357	chr6:133899561-133899562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34737492	chr6:133899577-133899578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565569154	chr6:133899588-133899589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534246482	chr6:133899655-133899656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60316888	chr6:133899669-133899670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6920911	chr6:133899675-133899676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376011717	chr6:133899771-133899772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567831580	chr6:133899819-133899820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187162467	chr6:133899883-133899884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556414641	chr6:133899884-133899885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576233824	chr6:133899914-133899915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542020050	chr6:133899921-133899922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62427500	chr6:133899923-133899924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190209361	chr6:133899943-133899944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6921193	chr6:133899963-133899964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560174943	chr6:133899973-133899974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532110465	chr6:133899983-133899984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375561907	chr6:133899984-133899985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550184449	chr6:133900003-133900004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369692215	chr6:133900004-133900005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6921501	chr6:133900014-133900015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9402518	chr6:133900015-133900016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568568326	chr6:133900023-133900024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62427501	chr6:133900059-133900060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190696721	chr6:133900073-133900074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547454199	chr6:133900078-133900079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570536964	chr6:133900102-133900103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539192936	chr6:133900103-133900104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6921707	chr6:133900165-133900166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181122553	chr6:133900166-133900167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538892919	chr6:133900170-133900171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57172639	chr6:133900187-133900188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397945605	chr6:133900208-133900209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9402519	chr6:133900219-133900220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575794783	chr6:133900234-133900235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9399066	chr6:133900271-133900272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559090046	chr6:133900276-133900277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185719482	chr6:133900286-133900287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6922365	chr6:133900294-133900295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574507842	chr6:133900298-133900299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539967824	chr6:133900304-133900305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6922078	chr6:133900376-133900377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs9385653	chr6:133900508-133900509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189734710	chr6:133900535-133900536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13219479	chr6:133900559-133900560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571268334	chr6:133900579-133900580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182906407	chr6:133900591-133900592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62427502	chr6:133900593-133900594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133895600-133908000	Weak transcription	NHDF-Ad	bronchial
2	chr6:133898600-133911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:133904800-133909800	Enhancers	Fetal Lung	lung
4	chr6:133905400-133908200	Weak transcription	NHLF	lung

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