Variant report
| Variant | esv1579961 |
|---|---|
| Chromosome Location | chr9:78919621-78922015 |
| 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 | chr9:78917718..78920640-chr9:78922356..78925203,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs77475022 | chr9:78919659-78919660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs2643332 | chr9:78919702-78919703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2643331 | chr9:78919722-78919723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs397834771 | chr9:78919742-78919743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs374382563 | chr9:78921435-78921436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs148955807 | chr9:78921654-78921655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs368523666 | chr9:78921709-78921710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs536330691 | chr9:78921862-78921863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs2934990 | chr9:78921870-78921871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113884147 | chr9:78921961-78921962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs3959961 | chr9:78921967-78921968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2377531 | chr9:78921995-78921996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113475761 | chr9:78922003-78922004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Chordoma | 18071362 | CNVD |
| 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 |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | 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 |
| Leukemia | 18688285 | 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 |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Melanoma | 17363583 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:78905800-78922400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 2 | chr9:78912400-78927800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 3 | chr9:78913400-78935200 | Weak transcription | Small Intestine | intestine |
| 4 | chr9:78916000-78925400 | Weak transcription | Duodenum Mucosa | Duodenum |
| 5 | chr9:78917400-78928000 | Weak transcription | Colonic Mucosa | Colon |
| 6 | chr9:78917600-78923600 | Weak transcription | Fetal Intestine Large | intestine |
| 7 | chr9:78918000-78923000 | Weak transcription | Stomach Mucosa | stomach |
| 8 | chr9:78918800-78924000 | Weak transcription | Fetal Intestine Small | intestine |
| 9 | chr9:78919000-78924800 | Weak transcription | Placenta | Placenta |
