Variant report
| Variant | esv3512608 |
|---|---|
| Chromosome Location | chr7:96522651-96523179 |
| 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 | rs529084560 | chr7:96522681-96522682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374397324 | chr7:96522685-96522686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs549037188 | chr7:96522709-96522710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7799380 | chr7:96522710-96522711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs375008942 | chr7:96522757-96522758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113471805 | chr7:96522759-96522760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573209453 | chr7:96522812-96522813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs372371297 | chr7:96522830-96522831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559582963 | chr7:96522936-96522937 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs189358386 | chr7:96522949-96522950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs551547588 | chr7:96522986-96522987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs386715947 | chr7:96523059-96523060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571216412 | chr7:96523065-96523066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537154866 | chr7:96523067-96523068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs550685069 | chr7:96523071-96523072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs576143302 | chr7:96523097-96523098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs180805634 | chr7:96523114-96523115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs559692882 | chr7:96523126-96523127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375494299 | chr7:96523130-96523131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs533154225 | chr7:96523150-96523151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:78)
| 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 |
| lymphocytic leukemia | 21291569 | 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 | chr7:96518000-96523400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
