Variant report

Variant	nsv968222
Chromosome Location	chr5:97980335-97981765
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	chr5:97980901..97982903-chr5:97985969..97988620,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548705972	chr5:97980384-97980385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75303288	chr5:97980401-97980402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs27391	chr5:97980423-97980424	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs578192054	chr5:97980488-97980489	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373790011	chr5:97980570-97980571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs29671	chr5:97980616-97980617	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571183416	chr5:97980633-97980634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530774486	chr5:97980642-97980643	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181941184	chr5:97980652-97980653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186150689	chr5:97980676-97980677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189245075	chr5:97980682-97980683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76891155	chr5:97980703-97980704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529108998	chr5:97980708-97980709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547560879	chr5:97980738-97980739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180969220	chr5:97980761-97980762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186049554	chr5:97980765-97980766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373387154	chr5:97980769-97980770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201431832	chr5:97980771-97980772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140285307	chr5:97980775-97980776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191191057	chr5:97980776-97980777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370916027	chr5:97980797-97980798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59126397	chr5:97980802-97980803	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74755094	chr5:97980803-97980804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368807050	chr5:97980804-97980805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372733239	chr5:97980805-97980806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79168456	chr5:97980825-97980826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537014242	chr5:97980842-97980843	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549129669	chr5:97980937-97980938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183107967	chr5:97980940-97980941	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575577093	chr5:97980977-97980978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534950800	chr5:97980996-97980997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141173802	chr5:97981004-97981005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555924638	chr5:97981014-97981015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79686760	chr5:97981064-97981065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76870116	chr5:97981104-97981105	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541453824	chr5:97981129-97981130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117996415	chr5:97981144-97981145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575259492	chr5:97981212-97981213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542594751	chr5:97981299-97981300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145170213	chr5:97981316-97981317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573285011	chr5:97981358-97981359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138999521	chr5:97981441-97981442	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559506178	chr5:97981444-97981445	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577920021	chr5:97981445-97981446	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs29768	chr5:97981447-97981448	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs186810282	chr5:97981484-97981485	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200590678	chr5:97981601-97981602	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563550676	chr5:97981621-97981622	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370290835	chr5:97981660-97981661	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35172615	chr5:97981672-97981673	Strong transcription Enhancers	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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97979600-97985800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97980000-97981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:97981400-97981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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