Variant report
| Variant | esv3369116 |
|---|---|
| Chromosome Location | chr9:117290464-117290692 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:117289511..117291651-chr9:117312234..117313920,2 | MCF-7 | breast: |
| 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 | rs182190663 | chr9:117290468-117290469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs546663727 | chr9:117290474-117290475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs576491389 | chr9:117290479-117290480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs187774206 | chr9:117290490-117290491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149740757 | chr9:117290496-117290497 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs368103494 | chr9:117290523-117290524 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs80009364 | chr9:117290546-117290547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78285361 | chr9:117290548-117290549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs145474444 | chr9:117290551-117290552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs531929653 | chr9:117290586-117290587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10982275 | chr9:117290599-117290600 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs568745950 | chr9:117290604-117290605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs544222528 | chr9:117290622-117290623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7863329 | chr9:117290656-117290657 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 15 | rs547793121 | chr9:117290662-117290663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370420557 | chr9:117290686-117290687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Lung cancer | 19147751 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Cervical cancer | 16585170 | CNVD |
| Ependymoma | 19289631 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:117287400-117293200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr9:117289600-117294400 | Weak transcription | Duodenum Mucosa | Duodenum |
