Variant report
| Variant | nsv892826 |
|---|---|
| Chromosome Location | chr9:25537109-25561285 |
| 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 | rs138142412 | chr9:25537626-25537627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368447624 | chr9:25537634-25537635 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10511757 | chr9:25537670-25537671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567980865 | chr9:25537681-25537682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149499681 | chr9:25537703-25537704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144042346 | chr9:25537704-25537705 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs578216843 | chr9:25537713-25537714 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs528957198 | chr9:25537742-25537743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs545478046 | chr9:25537752-25537753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs188379169 | chr9:25537807-25537808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148742935 | chr9:25537829-25537830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs534982435 | chr9:25537850-25537851 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs75970495 | chr9:25537869-25537870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs181157615 | chr9:25537904-25537905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs541264092 | chr9:25537905-25537906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs185077906 | chr9:25537925-25537926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs535005331 | chr9:25537954-25537955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs559366671 | chr9:25537955-25537956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs533306713 | chr9:25537980-25537981 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs551476472 | chr9:25538039-25538040 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs75132148 | chr9:25538045-25538046 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs142371942 | chr9:25538046-25538047 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs116499982 | chr9:25538055-25538056 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs147452821 | chr9:25538063-25538064 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs141335585 | chr9:25538085-25538086 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs7047713 | chr9:25538133-25538134 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs372447738 | chr9:25538141-25538142 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs571836778 | chr9:25538198-25538199 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs554801426 | chr9:25538201-25538202 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs557419369 | chr9:25538211-25538212 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs375436766 | chr9:25538216-25538217 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs576007037 | chr9:25538228-25538229 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs548318086 | chr9:25538299-25538300 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs537105980 | chr9:25538323-25538324 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs555489980 | chr9:25538346-25538347 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs573810723 | chr9:25538347-25538348 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs1537262 | chr9:25538362-25538363 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 38 | rs559541079 | chr9:25538364-25538365 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs78218899 | chr9:25538368-25538369 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs398010506 | chr9:25538377-25538378 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs577821388 | chr9:25538396-25538397 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs9942863 | chr9:25538406-25538407 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs537218961 | chr9:25538412-25538413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs182129219 | chr9:25538417-25538418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs530828904 | chr9:25538431-25538432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs548993431 | chr9:25538534-25538535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs187060515 | chr9:25538561-25538562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs528602346 | chr9:25538615-25538616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs546836756 | chr9:25538749-25538750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs571813365 | chr9:25538809-25538810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:128)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| 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 |
| 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 |
| Pancreatic cancer | 21811587 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Non-small cell lung cancer | 16651412 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| polycythaemia | 22829968 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:25537600-25538600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr9:25537600-25538600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 3 | chr9:25537600-25538600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr9:25537600-25539000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr9:25537800-25538200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr9:25537800-25538200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr9:25537800-25538200 | Enhancers | Fetal Lung | lung |
| 8 | chr9:25537800-25538400 | Enhancers | Fetal Kidney | kidney |
| 9 | chr9:25538000-25538400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr9:25538000-25538400 | Enhancers | Brain Cingulate Gyrus | brain |
| 11 | chr9:25538000-25538400 | Active TSS | Rectal Mucosa Donor 29 | rectum |
| 12 | chr9:25538000-25538600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 13 | chr9:25538000-25538600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 14 | chr9:25538200-25538600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 15 | chr9:25542400-25542800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 16 | chr9:25542400-25542800 | Enhancers | Placenta | Placenta |
| 17 | chr9:25542800-25546600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 18 | chr9:25545200-25546000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 19 | chr9:25545400-25545800 | Enhancers | H1 Cell Line | embryonic stem cell |
| 20 | chr9:25545400-25546000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 21 | chr9:25546600-25546800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 22 | chr9:25549400-25549600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 23 | chr9:25549400-25550600 | Enhancers | Fetal Heart | heart |
| 24 | chr9:25553600-25554600 | Enhancers | Placenta Amnion | Placenta Amnion |
| 25 | chr9:25554600-25555400 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 26 | chr9:25555400-25555800 | Enhancers | Placenta Amnion | Placenta Amnion |
| 27 | chr9:25555800-25556000 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 28 | chr9:25556000-25558000 | Enhancers | Placenta Amnion | Placenta Amnion |
| 29 | chr9:25557400-25558800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
