Variant report
| Variant | esv3357576 |
|---|---|
| Chromosome Location | chr9:7522764-7523301 |
| 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:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs565112581 | chr9:7522771-7522772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs10114142 | chr9:7522823-7522824 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs544378113 | chr9:7522831-7522832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs145033608 | chr9:7522861-7522862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147552030 | chr9:7522884-7522885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189287788 | chr9:7522892-7522893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs560388272 | chr9:7522902-7522903 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs114496734 | chr9:7522903-7522904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs79753244 | chr9:7522924-7522925 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs370965644 | chr9:7522928-7522929 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs62532969 | chr9:7522937-7522938 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs180839841 | chr9:7522943-7522944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs549563352 | chr9:7522960-7522961 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558021558 | chr9:7522963-7522964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs10114819 | chr9:7522987-7522988 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs535608499 | chr9:7523000-7523001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs376722045 | chr9:7523012-7523013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs36095850 | chr9:7523044-7523045 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs200209230 | chr9:7523045-7523046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs113639308 | chr9:7523083-7523084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs186584277 | chr9:7523138-7523139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs146161684 | chr9:7523141-7523142 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs528947669 | chr9:7523168-7523169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs577117743 | chr9:7523186-7523187 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs544605156 | chr9:7523214-7523215 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs111749769 | chr9:7523217-7523218 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs144356442 | chr9:7523270-7523271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs373145959 | chr9:7523275-7523276 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs541951235 | chr9:7523279-7523280 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs190944883 | chr9:7523283-7523284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs374558030 | chr9:7523285-7523286 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:101)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-small cell lung cancer | 21952639 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| abnormal development | 18461090 | CNVD |
| Honadal dysgenesis | 21048976 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Melanoma | 18172304 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myopathy | 18421352 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Acute lymphoblastic leukemia | 18957548 | CNVD |
| Myeloproliferative neoplasm | 17564968 | CNVD |
| Malignant meningioma | 17937814 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Lung cancer | 18438408 | CNVD |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:7520000-7522800 | Weak transcription | Fetal Lung | lung |
| 2 | chr9:7522800-7523200 | Enhancers | Fetal Brain Male | brain |
| 3 | chr9:7522800-7523400 | Enhancers | Fetal Lung | lung |
| 4 | chr9:7523000-7523800 | Enhancers | Fetal Heart | heart |
| 5 | chr9:7523200-7524000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
