Variant report

Variant	nsv564738
Chromosome Location	chr14:46586783-46659474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:262 , 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	rs541184988	chr14:46592214-46592215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566249176	chr14:46592235-46592236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs984792	chr14:46592241-46592242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574724961	chr14:46592279-46592280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571483953	chr14:46592392-46592393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539365370	chr14:46592402-46592403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557360280	chr14:46592403-46592404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193122307	chr14:46592404-46592405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542658776	chr14:46592440-46592441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554975063	chr14:46592441-46592442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573390933	chr14:46592532-46592533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530237899	chr14:46592537-46592538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565105679	chr14:46592540-46592541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141021834	chr14:46592557-46592558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113479637	chr14:46592608-46592609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372487922	chr14:46592630-46592631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561934492	chr14:46592700-46592701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17658591	chr14:46592707-46592708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148158416	chr14:46592708-46592709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529955209	chr14:46592718-46592719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550874000	chr14:46592728-46592729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566112906	chr14:46592732-46592733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527411633	chr14:46592748-46592749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7151257	chr14:46592753-46592754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78139227	chr14:46592773-46592774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532839498	chr14:46592774-46592775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538867458	chr14:46592799-46592800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116094557	chr14:46592826-46592827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75198301	chr14:46592842-46592843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150219964	chr14:46592867-46592868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539828208	chr14:46592939-46592940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571286561	chr14:46592940-46592941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540779383	chr14:46592974-46592975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559085298	chr14:46592980-46592981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143662974	chr14:46605055-46605056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564774362	chr14:46605131-46605132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145721862	chr14:46605169-46605170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550119259	chr14:46605193-46605194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545593009	chr14:46605214-46605215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200735888	chr14:46605288-46605289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564188337	chr14:46605291-46605292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568260922	chr14:46605300-46605301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181553500	chr14:46605382-46605383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537482324	chr14:46605459-46605460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533031139	chr14:46605464-46605465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535056768	chr14:46605490-46605491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186517243	chr14:46605535-46605536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114443175	chr14:46605541-46605542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143515703	chr14:46605552-46605553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570983596	chr14:46605611-46605612	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46592200-46592800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:46592200-46592800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:46592200-46592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:46592400-46592800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:46592400-46592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:46592400-46593000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:46592400-46593000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:46605000-46605400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:46605200-46607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:46605200-46607400	Enhancers	HUVEC	blood vessel
11	chr14:46605400-46606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:46605600-46606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:46605800-46607800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:46607400-46609000	Weak transcription	HUVEC	blood vessel
15	chr14:46609000-46609800	Enhancers	HUVEC	blood vessel
16	chr14:46616200-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:46616800-46617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:46616800-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:46616800-46617200	Enhancers	Brain Germinal Matrix	brain
20	chr14:46625400-46626000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links