Variant report
| Variant | esv1953564 |
|---|---|
| Chromosome Location | chr5:147461992-147462665 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:147449509..147451055-chr5:147462616..147464573,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs527390035 | chr5:147462132-147462133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552387209 | chr5:147462146-147462147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138952198 | chr5:147462150-147462151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs552810616 | chr5:147462374-147462375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188062314 | chr5:147462514-147462515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566186271 | chr5:147462546-147462547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142153164 | chr5:147462547-147462548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs192582746 | chr5:147462560-147462561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs10059850 | chr5:147462582-147462583 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 10 | rs10065129 | chr5:147462637-147462638 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:76)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | 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 |
| Thyroid cancer | 19087340 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 19377443 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Hyperekplexia | 16941485 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Crohn''s disease | 20877625 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:147437800-147463800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr5:147450400-147469000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 3 | chr5:147450600-147468600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr5:147450800-147474000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 5 | chr5:147451000-147470000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 6 | chr5:147454000-147470000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 7 | chr5:147455600-147469000 | Weak transcription | Esophagus | oesophagus |
| 8 | chr5:147457600-147462600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 9 | chr5:147462600-147463200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr5:147462600-147471600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
