Variant report
| Variant | esv2762689 |
|---|---|
| Chromosome Location | chr7:96946381-96946699 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs34378052 | chr7:96946404-96946405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs7796040 | chr7:96946412-96946413 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs566158695 | chr7:96946427-96946428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs534841547 | chr7:96946439-96946440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558247734 | chr7:96946468-96946469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs577929833 | chr7:96946469-96946470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7796570 | chr7:96946490-96946491 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs10267932 | chr7:96946502-96946503 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs386715959 | chr7:96946523-96946524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7796197 | chr7:96946524-96946525 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs113072634 | chr7:96946587-96946588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs7796739 | chr7:96946623-96946624 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs184399716 | chr7:96946632-96946633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs9692573 | chr7:96946643-96946644 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs12538310 | chr7:96946661-96946662 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs9691916 | chr7:96946699-96946700 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17170743 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Schizophrenia | 17879154 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Autism | 20858243 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Myoclonus-dystonia | 17898012 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Cancer | 20164920 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:96943800-96947000 | Weak transcription | H9 Cell Line | embryonic stem cell |
