Variant report

Variant	nsv518474
Chromosome Location	chr3:84720360-84728140
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	chr3:84716502..84719314-chr3:84721003..84723364,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VGLL3-6	chr3:84720735-84720854	NONHSAT090649
2	lnc-VGLL3-6	chr3:84721772-84722056	NONHSAT090649
3	lnc-VGLL3-6	chr3:84721772-84722056	ENSG00000242641.1
4	lnc-VGLL3-6	chr3:84720735-84720854	ENSG00000242641.1

Extended variants
information (count: 309 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9830050	chr3:84720360-84720361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557785696	chr3:84720362-84720363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186710154	chr3:84720369-84720370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62255481	chr3:84720376-84720377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543695127	chr3:84720409-84720410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555638509	chr3:84720438-84720439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9830231	chr3:84720461-84720462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541204981	chr3:84720469-84720470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369919921	chr3:84720509-84720510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189599726	chr3:84720513-84720514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141014117	chr3:84720534-84720535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545138080	chr3:84720540-84720541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563301175	chr3:84720551-84720552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530815501	chr3:84720565-84720566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549380399	chr3:84720566-84720567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182534033	chr3:84720586-84720587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143366117	chr3:84720609-84720610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547152201	chr3:84720616-84720617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571797529	chr3:84720636-84720637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539532555	chr3:84720675-84720676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144775214	chr3:84720745-84720746	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs569624475	chr3:84720865-84720866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567409268	chr3:84720870-84720871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73128901	chr3:84720880-84720881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111737644	chr3:84720982-84720983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111464564	chr3:84720983-84720984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573858443	chr3:84720994-84720995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377282475	chr3:84721006-84721007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116545074	chr3:84721019-84721020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73845534	chr3:84721039-84721040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544921665	chr3:84721051-84721052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577423467	chr3:84721105-84721106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376722609	chr3:84721124-84721125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192673144	chr3:84721202-84721203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563461397	chr3:84721212-84721213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575198705	chr3:84721213-84721214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565068797	chr3:84721262-84721263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185463851	chr3:84721263-84721264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561157061	chr3:84721273-84721274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369997859	chr3:84721334-84721335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188281495	chr3:84721341-84721342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528781298	chr3:84721379-84721380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529992902	chr3:84721409-84721410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193271615	chr3:84721422-84721423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565439553	chr3:84721432-84721433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374335437	chr3:84721456-84721457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529972003	chr3:84721499-84721500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551475040	chr3:84721529-84721530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569784252	chr3:84721539-84721540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184812080	chr3:84721547-84721548	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84720200-84722000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:84722000-84729800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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