Variant report
| Variant | esv1797349 |
|---|---|
| Chromosome Location | chr9:24502737-24520633 |
| 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 |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7855944 | chr9:24502737-24502738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs531516363 | chr9:24502738-24502739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181279005 | chr9:24502748-24502749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs143276110 | chr9:24502759-24502760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs533565254 | chr9:24502802-24502803 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs185433371 | chr9:24502815-24502816 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566921037 | chr9:24502820-24502821 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373323711 | chr9:24502867-24502868 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535970822 | chr9:24502873-24502874 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs555654414 | chr9:24502890-24502891 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs575766087 | chr9:24502933-24502934 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs538405116 | chr9:24502946-24502947 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562460607 | chr9:24502980-24502981 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs62573295 | chr9:24503014-24503015 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558169341 | chr9:24503021-24503022 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs375185770 | chr9:24503095-24503096 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs540561570 | chr9:24503149-24503150 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs116048995 | chr9:24503218-24503219 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs574058796 | chr9:24503221-24503222 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs543175816 | chr9:24503228-24503229 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs532908685 | chr9:24503248-24503249 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs188216177 | chr9:24503255-24503256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs58158528 | chr9:24503302-24503303 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs147144802 | chr9:24503337-24503338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs539992658 | chr9:24503361-24503362 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs531411755 | chr9:24503379-24503380 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs560351349 | chr9:24503401-24503402 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs527855682 | chr9:24503503-24503504 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs62573296 | chr9:24503506-24503507 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs564924964 | chr9:24503534-24503535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs10593008 | chr9:24503537-24503538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs369377687 | chr9:24503544-24503545 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs71508604 | chr9:24503553-24503554 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs527633146 | chr9:24503602-24503603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs180723619 | chr9:24503613-24503614 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs566958061 | chr9:24503621-24503622 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs567609872 | chr9:24503623-24503624 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs529609157 | chr9:24503641-24503642 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs186499419 | chr9:24503642-24503643 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs569684413 | chr9:24503649-24503650 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs538064567 | chr9:24503686-24503687 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs531988912 | chr9:24503797-24503798 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs138630915 | chr9:24503801-24503802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs191793892 | chr9:24503851-24503852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs534522285 | chr9:24503862-24503863 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs142769351 | chr9:24503907-24503908 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs549909577 | chr9:24503969-24503970 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs373499452 | chr9:24503971-24503972 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs182004080 | chr9:24503973-24503974 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs571588060 | chr9:24504056-24504057 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:145)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Oral squamous cell carcinoma | 17134496 | 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 |
| 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Cancer | 22183965 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| head and neck squamous cell carcinoma | 21798897 | CNVD |
| Cancer | 21253487 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Glioma | 17123091 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Acute lymphoblastic leukemia | 18768390 | CNVD |
| Leukemia | 19602459 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Leukemia | 18688285 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Coronary Disease | 20032323 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21732550 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 16977458 | CNVD |
| Glioblastoma multiforme | 17369134 | CNVD |
| Chagasic megaesophagus | 20163722 | CNVD |
| Melanoma | 19566914 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Melanoma | 17363583 | CNVD |
| Glioblastoma multiforme | 19115005 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Renal cell carcinoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:24495800-24504200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 2 | chr9:24499000-24503400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr9:24501400-24503200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr9:24501600-24503200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 5 | chr9:24502000-24503000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr9:24502000-24503200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr9:24502200-24503200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 8 | chr9:24502400-24502800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr9:24502400-24503000 | Enhancers | H1 Cell Line | embryonic stem cell |
| 10 | chr9:24502400-24503000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 11 | chr9:24502600-24503000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 12 | chr9:24502600-24503200 | Enhancers | H9 Cell Line | embryonic stem cell |
| 13 | chr9:24502600-24503800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 14 | chr9:24502800-24503000 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 15 | chr9:24502800-24503200 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
| 16 | chr9:24503000-24506000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 17 | chr9:24503000-24509800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 18 | chr9:24503200-24503800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 19 | chr9:24503200-24504400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 20 | chr9:24503200-24509000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 21 | chr9:24503200-24510000 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 22 | chr9:24503400-24504800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 23 | chr9:24504600-24504800 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 24 | chr9:24504800-24505000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 25 | chr9:24506000-24506200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 26 | chr9:24509000-24510800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 27 | chr9:24509800-24511200 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 28 | chr9:24509800-24511600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 29 | chr9:24510000-24510200 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
| 30 | chr9:24510800-24512200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 31 | chr9:24511000-24511200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 32 | chr9:24520400-24521400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
