Variant report

Variant	nsv329236
Chromosome Location	chr5:52058922-52060326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182406937	chr5:52059033-52059034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549002070	chr5:52059059-52059060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567246159	chr5:52059138-52059139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553974818	chr5:52059148-52059149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146753529	chr5:52059153-52059154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549550856	chr5:52059169-52059170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558199048	chr5:52059181-52059182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187660828	chr5:52059213-52059214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140365972	chr5:52059244-52059245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572290614	chr5:52059245-52059246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553605750	chr5:52059259-52059260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62361177	chr5:52059331-52059332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192633855	chr5:52059392-52059393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577997393	chr5:52059405-52059406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35914180	chr5:52059437-52059438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543531246	chr5:52059439-52059440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572318207	chr5:52059452-52059453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536245693	chr5:52059454-52059455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539696151	chr5:52059456-52059457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557799248	chr5:52059465-52059466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576441526	chr5:52059489-52059490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377542170	chr5:52059508-52059509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543900955	chr5:52059520-52059521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564544944	chr5:52059552-52059553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577466589	chr5:52059579-52059580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143552505	chr5:52059599-52059600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116331141	chr5:52059636-52059637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530471927	chr5:52059655-52059656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575979495	chr5:52059670-52059671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60357834	chr5:52059699-52059700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150973175	chr5:52059733-52059734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12187612	chr5:52059739-52059740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35495244	chr5:52059818-52059819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185688817	chr5:52059825-52059826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141002542	chr5:52059853-52059854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79380966	chr5:52059860-52059861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189015596	chr5:52059881-52059882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150213625	chr5:52059889-52059890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547232973	chr5:52059933-52059934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192993053	chr5:52059934-52059935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139074090	chr5:52059941-52059942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540750506	chr5:52059976-52059977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559500275	chr5:52059978-52059979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570003541	chr5:52060080-52060081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537443630	chr5:52060164-52060165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559051871	chr5:52060168-52060169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577452668	chr5:52060169-52060170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541640537	chr5:52060209-52060210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553558173	chr5:52060226-52060227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs244489	chr5:52060228-52060229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52053200-52069600	Weak transcription	Right Atrium	heart

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