Variant report
| Variant | esv2759665 |
|---|---|
| Chromosome Location | chr9:9962603-9974221 |
| 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 | rs370657979 | chr9:9963203-9963204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs547194688 | chr9:9963211-9963212 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545992547 | chr9:9963243-9963244 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570267698 | chr9:9963272-9963273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556093000 | chr9:9963342-9963343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539261072 | chr9:9963344-9963345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546468706 | chr9:9963360-9963361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs569664730 | chr9:9963371-9963372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538989304 | chr9:9963384-9963385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535460770 | chr9:9963389-9963390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201816141 | chr9:9963423-9963424 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs111711541 | chr9:9963426-9963427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs557194272 | chr9:9963439-9963440 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs79812440 | chr9:9963452-9963453 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572366380 | chr9:9963490-9963491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs542084084 | chr9:9963504-9963505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs370778480 | chr9:9963528-9963529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs562032796 | chr9:9963532-9963533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs578209965 | chr9:9963556-9963557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs544076819 | chr9:9963573-9963574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs187566463 | chr9:9963579-9963580 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs114776707 | chr9:9963595-9963596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs146341403 | chr9:9965036-9965037 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs139637036 | chr9:9965042-9965043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs10116230 | chr9:9965050-9965051 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs544513446 | chr9:9965140-9965141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs150615795 | chr9:9965145-9965146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs530109450 | chr9:9965165-9965166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs546739105 | chr9:9965167-9965168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs139984310 | chr9:9965173-9965174 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs532545141 | chr9:9965179-9965180 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs374289965 | chr9:9965208-9965209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs16924761 | chr9:9965218-9965219 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs377653943 | chr9:9965239-9965240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs569122843 | chr9:9965248-9965249 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs185679738 | chr9:9965260-9965261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs548863172 | chr9:9965317-9965318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs71497164 | chr9:9965336-9965337 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs536283652 | chr9:9965348-9965349 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs62536924 | chr9:9965354-9965355 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs147925731 | chr9:9965362-9965363 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs140110454 | chr9:9965364-9965365 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs551409029 | chr9:9965365-9965366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs575534743 | chr9:9965384-9965385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs544132093 | chr9:9965407-9965408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs561245781 | chr9:9965409-9965410 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs145577671 | chr9:9965415-9965416 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs369462018 | chr9:9965445-9965446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs147578947 | chr9:9965450-9965451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs189172228 | chr9:9965488-9965489 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:115)
| Disease | PMID | Source |
|---|---|---|
| abnormal development | 18461090 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Honadal dysgenesis | 21048976 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Glioblastoma multiforme | 21080181 | 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Intellectual disability | 22102821 | 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 |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Glioblastoma | 18772890 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | CNVD |
| Developmental delay | 21147756 | CNVD |
| small cell lung cancer | 21764851 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Cutaneous squamous cell carcinomas | 17420988 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Lung adenocarcinoma | 17982442 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Glioma | 20126413 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:9963200-9963600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr9:9965000-9965400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr9:9965200-9967800 | Enhancers | Fetal Heart | heart |
| 4 | chr9:9969600-9970000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr9:9970000-9972800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr9:9970600-9971000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 7 | chr9:9972800-9973000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 8 | chr9:9972800-9973600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr9:9973200-9973600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
