Variant report

Variant	nsv969333
Chromosome Location	chr6:145465665-145466917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544518336	chr6:145465683-145465684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562712954	chr6:145465699-145465700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75441396	chr6:145465752-145465753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs514258	chr6:145465760-145465761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560421963	chr6:145465787-145465788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527681979	chr6:145465834-145465835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114470161	chr6:145465859-145465860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs515224	chr6:145465890-145465891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368387901	chr6:145465962-145465963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73560176	chr6:145465963-145465964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550122185	chr6:145465999-145466000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571420331	chr6:145466014-145466015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534553557	chr6:145466039-145466040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56361215	chr6:145466041-145466042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370418092	chr6:145466066-145466067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553825257	chr6:145466104-145466105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142234537	chr6:145466116-145466117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145662588	chr6:145466127-145466128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554179994	chr6:145466134-145466135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138214557	chr6:145466155-145466156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544454987	chr6:145466171-145466172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562848294	chr6:145466183-145466184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142719477	chr6:145466193-145466194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545323654	chr6:145466225-145466226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537313422	chr6:145466236-145466237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs519653	chr6:145466337-145466338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs519680	chr6:145466342-145466343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144296125	chr6:145466445-145466446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188665608	chr6:145466517-145466518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6937641	chr6:145466544-145466545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9390281	chr6:145466547-145466548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573472408	chr6:145466563-145466564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148736945	chr6:145466629-145466630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547307358	chr6:145466646-145466647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141274808	chr6:145466720-145466721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181011077	chr6:145466785-145466786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558058498	chr6:145466837-145466838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535912900	chr6:145466845-145466846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577611900	chr6:145466846-145466847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs666422	chr6:145466866-145466867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
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
Gastric cancer	17908304	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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145461400-145469200	Weak transcription	Adipose Nuclei	Adipose
2	chr6:145461600-145468400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:145463400-145468200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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