Variant report

Variant	nsv965616
Chromosome Location	chr5:49642415-49658734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 539 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13174293	chr5:49648025-49648026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552306821	chr5:49648048-49648049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569157212	chr5:49648058-49648059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537531369	chr5:49648066-49648067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554271868	chr5:49648097-49648098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188978164	chr5:49648128-49648129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181890225	chr5:49648139-49648140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186481424	chr5:49648143-49648144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75088077	chr5:49648149-49648150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142739077	chr5:49648153-49648154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546122753	chr5:49648159-49648160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76687031	chr5:49648210-49648211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191009396	chr5:49648219-49648220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576340608	chr5:49648220-49648221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146936211	chr5:49648225-49648226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561342288	chr5:49648263-49648264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181487744	chr5:49648266-49648267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62386166	chr5:49648309-49648310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114469195	chr5:49648350-49648351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532693246	chr5:49648356-49648357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111900258	chr5:49648371-49648372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562719373	chr5:49648379-49648380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184950545	chr5:49648411-49648412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548388947	chr5:49648431-49648432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568023016	chr5:49648443-49648444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531533979	chr5:49648467-49648468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533887436	chr5:49648480-49648481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569407672	chr5:49648481-49648482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547072114	chr5:49648484-49648485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570466479	chr5:49648502-49648503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35066865	chr5:49648514-49648515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs556528333	chr5:49648517-49648518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541514808	chr5:49648551-49648552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147311627	chr5:49648552-49648553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576428650	chr5:49648559-49648560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554711549	chr5:49648569-49648570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112642441	chr5:49648581-49648582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573417132	chr5:49648592-49648593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137867961	chr5:49648600-49648601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117573980	chr5:49648664-49648665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35220247	chr5:49648669-49648670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs560278605	chr5:49648672-49648673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs118187046	chr5:49648686-49648687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115423235	chr5:49648734-49648735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114434907	chr5:49648741-49648742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531892550	chr5:49648780-49648781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6871329	chr5:49648790-49648791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577612813	chr5:49648792-49648793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188668685	chr5:49649616-49649617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529194853	chr5:49649630-49649631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49648000-49648800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:49648400-49648800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:49649600-49659000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:49650600-49651000	Active TSS	Pancreas	Pancrea
5	chr5:49652600-49653600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:49652600-49658800	Weak transcription	Dnd41	blood
7	chr5:49652800-49665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:49653000-49658000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:49653600-49654000	Strong transcription	Primary B cells from cord blood	blood
10	chr5:49654000-49654200	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr5:49654200-49658600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:49656400-49661800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:49656400-49677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:49658000-49659200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:49658200-49661000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:49658600-49659200	Enhancers	Primary T cells from cord blood	blood
17	chr5:49658600-49659400	Strong transcription	Primary B cells from cord blood	blood
18	chr5:49658600-49661200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:49658600-49661200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:49658600-49661200	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links