Variant report
| Variant | esv3418239 |
|---|---|
| Chromosome Location | chr2:209079551-209079821 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs187213032 | chr2:209079562-209079563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141616313 | chr2:209079596-209079597 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs569561294 | chr2:209079632-209079633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548651682 | chr2:209079643-209079644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565788269 | chr2:209079645-209079646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534383373 | chr2:209079652-209079653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs552035732 | chr2:209079656-209079657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs571847283 | chr2:209079688-209079689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs527940211 | chr2:209079689-209079690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537787311 | chr2:209079718-209079719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs557677111 | chr2:209079726-209079727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs547589860 | chr2:209079729-209079730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574209806 | chr2:209079749-209079750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs536673478 | chr2:209079750-209079751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76650484 | chr2:209079758-209079759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs548556981 | chr2:209079773-209079774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs190496850 | chr2:209079810-209079811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Autism | 20808228 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Ovarian cancer | 19193619 | CNVD |
| Non-small cell lung cancer | 18676828 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:209062600-209080000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr2:209078800-209080000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr2:209078800-209080200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 4 | chr2:209079000-209080200 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 5 | chr2:209079000-209080600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 6 | chr2:209079200-209080200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
