Variant report

Variant	nsv969233
Chromosome Location	chr5:88778269-88781712
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	chr5:88781201..88784356-chr5:88786376..88788302,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527896900	chr5:88778336-88778337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547931692	chr5:88778358-88778359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553490340	chr5:88778372-88778373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13183923	chr5:88778384-88778385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376191413	chr5:88778454-88778455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145828211	chr5:88778458-88778459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73170244	chr5:88778471-88778472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192700329	chr5:88778501-88778502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7731614	chr5:88778529-88778530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs72775553	chr5:88778532-88778533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557900237	chr5:88778567-88778568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138552727	chr5:88778600-88778601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533750505	chr5:88778693-88778694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117961591	chr5:88778698-88778699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573892408	chr5:88778704-88778705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377084190	chr5:88778724-88778725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148875233	chr5:88778730-88778731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556311390	chr5:88778741-88778742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185459857	chr5:88778742-88778743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80282551	chr5:88778762-88778763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143564488	chr5:88778786-88778787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565049134	chr5:88778814-88778815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374523327	chr5:88778816-88778817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527734835	chr5:88778832-88778833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17569591	chr5:88778848-88778849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1919243	chr5:88778861-88778862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530352418	chr5:88778867-88778868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16867641	chr5:88778915-88778916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188424263	chr5:88778996-88778997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530143826	chr5:88779016-88779017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531341082	chr5:88779048-88779049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142629203	chr5:88779065-88779066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571413841	chr5:88779069-88779070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533877308	chr5:88779110-88779111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114853039	chr5:88779115-88779116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35803182	chr5:88779152-88779153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs567434104	chr5:88779195-88779196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536032506	chr5:88779284-88779285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560325838	chr5:88779287-88779288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77643547	chr5:88779288-88779289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77611364	chr5:88779352-88779353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545006651	chr5:88779387-88779388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184755948	chr5:88779412-88779413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558527645	chr5:88779449-88779450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572249425	chr5:88779470-88779471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541490654	chr5:88779515-88779516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189256382	chr5:88779518-88779519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530329975	chr5:88779558-88779559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549116170	chr5:88779574-88779575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88771200-88779600	Weak transcription	Aorta	Aorta
2	chr5:88778800-88779600	Enhancers	Psoas Muscle	Psoas

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