Variant report
Variant | esv3505682 |
---|---|
Chromosome Location | chr9:18508814-18509269 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs12001382 | chr9:18508820-18508821 | Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs372546946 | chr9:18508862-18508863 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs549323610 | chr9:18508909-18508910 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs369705394 | chr9:18508954-18508955 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs567536009 | chr9:18508978-18508979 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs531859117 | chr9:18508981-18508982 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs200030368 | chr9:18508998-18508999 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs538007353 | chr9:18509012-18509013 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs573229343 | chr9:18509026-18509027 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs9792510 | chr9:18509036-18509037 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs540641789 | chr9:18509038-18509039 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs4385563 | chr9:18509043-18509044 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs550001591 | chr9:18509045-18509046 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs574392006 | chr9:18509051-18509052 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs9792511 | chr9:18509055-18509056 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs557686380 | chr9:18509090-18509091 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs375095494 | chr9:18509106-18509107 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs533552900 | chr9:18509107-18509108 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs551212787 | chr9:18509139-18509140 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs560212265 | chr9:18509152-18509153 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs60106019 | chr9:18509220-18509221 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs57922962 | chr9:18509229-18509230 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
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 |
Glycine encephalopathy | 21572526 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Cancer | 22183965 | CNVD |
Ovarian cancer | 19835627 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Melanoma | 20877625 | CNVD |
Autism | 20858261 | CNVD |
Epilepsy | 20858261 | CNVD |
Mental retardation | 20858261 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:18490400-18509400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr9:18495400-18513200 | Weak transcription | HUVEC | blood vessel |
3 | chr9:18501600-18510800 | Strong transcription | HSMM | muscle |
4 | chr9:18501600-18520400 | Weak transcription | Fetal Stomach | stomach |
5 | chr9:18502200-18518800 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
6 | chr9:18502600-18509400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr9:18502800-18520400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
8 | chr9:18504400-18509400 | Strong transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
9 | chr9:18506800-18519800 | Weak transcription | Muscle Satellite Cultured Cells | -- |
10 | chr9:18508000-18509400 | Weak transcription | NHDF-Ad | bronchial |
11 | chr9:18508600-18509400 | Weak transcription | NH-A | brain |
12 | chr9:18508600-18511000 | Weak transcription | Osteobl | bone |