Variant report

Variant	nsv968220
Chromosome Location	chr5:96387064-96392806
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	chr5:96189537..96191977-chr5:96384132..96387078,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LNPEP-2	chr5:96391087-96391521	expReg_chr5_5481_+

Extended variants
information (count: 234 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570980872	chr5:96387067-96387068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78356220	chr5:96387095-96387096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36053425	chr5:96387112-96387113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556620441	chr5:96387186-96387187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568728835	chr5:96387210-96387211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151239730	chr5:96387260-96387261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116389289	chr5:96387264-96387265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140627029	chr5:96387312-96387313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540344055	chr5:96387319-96387320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566897247	chr5:96387331-96387332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572276559	chr5:96387352-96387353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576991655	chr5:96387379-96387380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544378495	chr5:96387415-96387416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562680762	chr5:96387424-96387425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75968530	chr5:96387436-96387437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116709204	chr5:96387439-96387440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541681590	chr5:96387477-96387478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192049121	chr5:96387499-96387500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564071009	chr5:96387500-96387501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555805746	chr5:96387509-96387510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115116815	chr5:96387521-96387522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527652190	chr5:96387623-96387624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184500706	chr5:96387634-96387635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150050389	chr5:96387669-96387670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531853344	chr5:96387724-96387725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189236886	chr5:96387759-96387760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532927881	chr5:96387760-96387761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181991420	chr5:96387763-96387764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187271782	chr5:96387808-96387809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537862737	chr5:96387809-96387810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566495860	chr5:96387815-96387816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77998092	chr5:96387831-96387832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558401865	chr5:96387850-96387851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576862039	chr5:96387962-96387963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537497852	chr5:96387983-96387984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11750003	chr5:96387990-96387991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145345475	chr5:96387994-96387995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78944708	chr5:96388031-96388032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541744696	chr5:96388072-96388073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559996060	chr5:96388202-96388203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189348622	chr5:96388210-96388211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545784855	chr5:96388228-96388229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145096446	chr5:96388231-96388232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116491974	chr5:96388288-96388289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140195242	chr5:96388292-96388293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140866718	chr5:96388306-96388307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529478916	chr5:96388329-96388330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548137317	chr5:96388383-96388384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180876275	chr5:96388414-96388415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114064256	chr5:96388417-96388418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96386800-96397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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