Variant report
| Variant | esv3331035 |
|---|---|
| Chromosome Location | chr9:105798081-105799979 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73659660 | chr9:105799422-105799423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77419293 | chr9:105799445-105799446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113013697 | chr9:105799457-105799458 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs114760811 | chr9:105799463-105799464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs544933197 | chr9:105799502-105799503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564279830 | chr9:105799511-105799512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs550688593 | chr9:105799513-105799514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs189309225 | chr9:105799565-105799566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs546709926 | chr9:105799571-105799572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs76661903 | chr9:105799573-105799574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs536285182 | chr9:105799602-105799603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539115338 | chr9:105799605-105799606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182291109 | chr9:105799614-105799615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs187068993 | chr9:105799657-105799658 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1341208 | chr9:105799664-105799665 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs566115109 | chr9:105799676-105799677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs190944262 | chr9:105799767-105799768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs571492916 | chr9:105799901-105799902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs1341209 | chr9:105799903-105799904 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 20 | rs371481814 | chr9:105799959-105799960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs553516801 | chr9:105799971-105799972 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Fukuyama congenital muscular dystrophy | 21572526 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:105799400-105800600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr9:105799400-105800600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 3 | chr9:105799600-105800600 | Enhancers | H1 Cell Line | embryonic stem cell |
| 4 | chr9:105799600-105800600 | Enhancers | Left Ventricle | heart |
| 5 | chr9:105799800-105800800 | Enhancers | Right Ventricle | heart |
| 6 | chr9:105799800-105801200 | Enhancers | Fetal Heart | heart |
| 7 | chr9:105799800-105801400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
