Variant report
| Variant | esv3412636 |
|---|---|
| Chromosome Location | chr9:17997677-17998253 |
| 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 | rs185644373 | chr9:17997677-17997678 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs553056634 | chr9:17997714-17997715 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs574693333 | chr9:17997727-17997728 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542011493 | chr9:17997728-17997729 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557739849 | chr9:17997758-17997759 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs563621357 | chr9:17997769-17997770 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537449790 | chr9:17997774-17997775 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs62553114 | chr9:17997775-17997776 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs79504993 | chr9:17997778-17997779 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs116951187 | chr9:17997790-17997791 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576091137 | chr9:17997819-17997820 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532514206 | chr9:17997827-17997828 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs541132649 | chr9:17997831-17997832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs559382484 | chr9:17997832-17997833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs7867406 | chr9:17997898-17997899 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs60504802 | chr9:17997958-17997959 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs149470209 | chr9:17997971-17997972 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs531096068 | chr9:17997980-17997981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs552192621 | chr9:17998001-17998002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs368371040 | chr9:17998024-17998025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs370576081 | chr9:17998055-17998056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs111640202 | chr9:17998076-17998077 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs543627448 | chr9:17998089-17998090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs7856954 | chr9:17998102-17998103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs7043577 | chr9:17998105-17998106 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs568133761 | chr9:17998171-17998172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs144834654 | chr9:17998195-17998196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs60097187 | chr9:17998210-17998211 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs559084577 | chr9:17998211-17998212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs12378851 | chr9:17998231-17998232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs545774000 | chr9:17998252-17998253 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| abnormal development | 18461090 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Autism | 22495311 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 22183965 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glycine encephalopathy | 21572526 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 22183965 | CNVD |
| Ovarian cancer | 19835627 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:17988200-18004400 | Weak transcription | Aorta | Aorta |
| 2 | chr9:17990600-17998000 | Enhancers | Hela-S3 | cervix |
| 3 | chr9:17995200-18003400 | Weak transcription | Duodenum Mucosa | Duodenum |
| 4 | chr9:17995400-18002000 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
