Variant report
| Variant | esv3436903 |
|---|---|
| Chromosome Location | chr5:104923678-104926226 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:104926004..104928970-chr5:104930124..104932222,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs369790629 | chr5:104923808-104923809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375272929 | chr5:104923825-104923826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577812015 | chr5:104923850-104923851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs543262051 | chr5:104923877-104923878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs1559262 | chr5:104923878-104923879 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs139510656 | chr5:104923880-104923881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs542612232 | chr5:104923904-104923905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs559423964 | chr5:104923921-104923922 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs192783902 | chr5:104924012-104924013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs184711411 | chr5:104924017-104924018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552098556 | chr5:104924107-104924108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs565326998 | chr5:104924125-104924126 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188460939 | chr5:104924132-104924133 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs574700679 | chr5:104924177-104924178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201412842 | chr5:104924188-104924189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs550893919 | chr5:104924189-104924190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs192816657 | chr5:104924197-104924198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:104923800-104924200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
