Variant report
| Variant | esv3497026 |
|---|---|
| Chromosome Location | chr5:97413841-97414084 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs369956174 | chr5:97413841-97413842 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373374236 | chr5:97413842-97413843 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs35989356 | chr5:97413843-97413844 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs377417191 | chr5:97413844-97413845 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs397773515 | chr5:97413845-97413846 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201987285 | chr5:97413846-97413847 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192198395 | chr5:97413922-97413923 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs202118244 | chr5:97413947-97413948 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs17655283 | chr5:97413951-97413952 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs184697921 | chr5:97413954-97413955 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538072092 | chr5:97413980-97413981 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs72767651 | chr5:97413987-97413988 | Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs386690337 | chr5:97413999-97414000 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs72767652 | chr5:97414000-97414001 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs200183317 | chr5:97414007-97414008 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370709748 | chr5:97414010-97414011 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554186798 | chr5:97414047-97414048 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs572436434 | chr5:97414048-97414049 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs546310307 | chr5:97414052-97414053 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs558442368 | chr5:97414067-97414068 | Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:80)
| 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 |
| Breast cancer | 21611746 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:97413800-97414200 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
