Variant report

Variant	esv1401068
Chromosome Location	chr5:98858660-98859479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2682146	chr5:98858678-98858679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112482872	chr5:98858681-98858682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56371960	chr5:98858688-98858689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538421085	chr5:98858692-98858693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4703094	chr5:98858706-98858707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201128274	chr5:98858733-98858734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62374992	chr5:98858756-98858757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377275344	chr5:98858767-98858768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370711206	chr5:98858824-98858825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556510413	chr5:98858841-98858842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575049837	chr5:98858868-98858869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542133308	chr5:98858896-98858897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375152355	chr5:98858921-98858922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571710462	chr5:98858937-98858938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62374993	chr5:98858944-98858945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564198913	chr5:98858975-98858976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531339748	chr5:98858980-98858981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62374994	chr5:98858987-98858988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200896098	chr5:98859006-98859007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202031880	chr5:98859041-98859042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376748404	chr5:98859060-98859061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199992365	chr5:98859067-98859068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372638432	chr5:98859116-98859117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200571501	chr5:98859127-98859128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201607908	chr5:98859141-98859142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200108473	chr5:98859146-98859147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375587728	chr5:98859219-98859220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368264975	chr5:98859220-98859221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371712923	chr5:98859271-98859272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57444449	chr5:98859276-98859277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369061696	chr5:98859288-98859289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547721223	chr5:98859294-98859295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58107088	chr5:98859328-98859329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375718874	chr5:98859334-98859335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552326358	chr5:98859339-98859340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113198968	chr5:98859350-98859351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58418208	chr5:98859357-98859358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373820249	chr5:98859360-98859361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55984111	chr5:98859363-98859364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60521613	chr5:98859371-98859372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537977131	chr5:98859377-98859378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550315012	chr5:98859385-98859386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568326406	chr5:98859390-98859391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373933731	chr5:98859422-98859423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535704365	chr5:98859427-98859428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554040928	chr5:98859470-98859471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375260340	chr5:98859479-98859480	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	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
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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98858400-98859400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:98859400-98859600	Enhancers	Fetal Muscle Trunk	muscle

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