Variant report
| Variant | nsv430008 |
|---|---|
| Chromosome Location | chr9:24617036-24692114 |
| 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 | rs16908647 | chr9:24617036-24617037 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs553281841 | chr9:24617038-24617039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572787954 | chr9:24617111-24617112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs560307225 | chr9:24617188-24617189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371840849 | chr9:24617198-24617199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs146201107 | chr9:24620609-24620610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186517254 | chr9:24620644-24620645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs530564296 | chr9:24620653-24620654 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs191326294 | chr9:24620671-24620672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12115192 | chr9:24620728-24620729 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs13285602 | chr9:24620736-24620737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs13284759 | chr9:24620737-24620738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs139203402 | chr9:24620756-24620757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531942335 | chr9:24620761-24620762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs182696741 | chr9:24620792-24620793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs571923520 | chr9:24620835-24620836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs534197720 | chr9:24620848-24620849 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs554423672 | chr9:24620864-24620865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs12115195 | chr9:24620879-24620880 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs371751528 | chr9:24620900-24620901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189597279 | chr9:24620909-24620910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs183242487 | chr9:24620911-24620912 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs544814934 | chr9:24620934-24620935 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs187562666 | chr9:24620993-24620994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs74954133 | chr9:24621013-24621014 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs542491745 | chr9:24621042-24621043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs191748004 | chr9:24621071-24621072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs12115222 | chr9:24621093-24621094 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs543393829 | chr9:24621129-24621130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs371218049 | chr9:24621139-24621140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs532209669 | chr9:24621152-24621153 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs117664365 | chr9:24621161-24621162 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs565365851 | chr9:24621188-24621189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs527870744 | chr9:24621206-24621207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs547816970 | chr9:24621208-24621209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs142505960 | chr9:24621238-24621239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs567946513 | chr9:24621244-24621245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs35012406 | chr9:24621260-24621261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs34838283 | chr9:24621284-24621285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs536250662 | chr9:24621292-24621293 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs16908661 | chr9:24621304-24621305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs562488982 | chr9:24621305-24621306 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs569832455 | chr9:24621324-24621325 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs183656860 | chr9:24621349-24621350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs572475639 | chr9:24621367-24621368 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs188094495 | chr9:24621377-24621378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs7041483 | chr9:24621394-24621395 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs371279199 | chr9:24621419-24621420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs554569634 | chr9:24621438-24621439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs143867452 | chr9:24621448-24621449 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:143)
| 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 |
| Lung cancer | 21569311 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:24615800-24617200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr9:24620600-24621800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
| 3 | chr9:24624800-24625200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr9:24648400-24650200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr9:24648600-24650000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 6 | chr9:24649600-24650000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr9:24649600-24650000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 8 | chr9:24649600-24650000 | ZNF genes & repeats | Pancreas | Pancrea |
| 9 | chr9:24659600-24660400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr9:24673600-24674000 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 11 | chr9:24681200-24682000 | Enhancers | Fetal Brain Male | brain |
