Variant report
| Variant | esv3342929 |
|---|---|
| Chromosome Location | chr5:97584977-97585177 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539390251 | chr5:97584981-97584982 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs551767859 | chr5:97585001-97585002 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147040444 | chr5:97585008-97585009 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs531825318 | chr5:97585032-97585033 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373207561 | chr5:97585041-97585042 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568469231 | chr5:97585056-97585057 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs28970359 | chr5:97585068-97585069 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs573885465 | chr5:97585086-97585087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535038864 | chr5:97585095-97585096 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs553606966 | chr5:97585103-97585104 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs138267946 | chr5:97585120-97585121 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs527652898 | chr5:97585149-97585150 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs563777185 | chr5:97585153-97585154 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs371538139 | chr5:97585177-97585178 | Weak 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 |
| Breast cancer | 21611746 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:97582200-97602400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:97583800-97585600 | Enhancers | Osteobl | bone |
| 3 | chr5:97584600-97585200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr5:97584600-97585200 | Enhancers | NHEK | skin |
| 5 | chr5:97584600-97585400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 6 | chr5:97584800-97585200 | Enhancers | NH-A | brain |
