Variant report
| Variant | esv15996 |
|---|---|
| Chromosome Location | chr9:136862625-136863975 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr9:136863213-136863299 | Kidney_OC | kidney: | n/a | n/a |
| 2 | MYC | chr9:136863130-136863345 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 3 | POLR2A | chr9:136863068-136863104 | HepG2 | liver: | n/a | n/a |
| 4 | POLR2A | chr9:136862625-136862762 | MCF10A-Er-Src | breast: | n/a | n/a |
| 5 | POLR2A | chr9:136863015-136863031 | MCF-7 | breast: | n/a | n/a |
| 6 | POLR2A | chr9:136862962-136863014 | MCF-7 | breast: | n/a | n/a |
| 7 | ZNF263 | chr9:136863283-136863449 | HEK293-T-REx | kidney: | n/a | chr9:136863369-136863390 chr9:136863405-136863426 |
| 8 | ZNF263 | chr9:136862759-136862966 | HEK293-T-REx | kidney: | n/a | chr9:136862843-136862864 chr9:136862910-136862931 chr9:136862867-136862888 |
| No data |
(count:7 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:136862110..136863707-chr9:136863725..136867446,4 | MCF-7 | breast: | |
| 2 | chr9:136741297..136743504-chr9:136863564..136865596,2 | MCF-7 | breast: | |
| 3 | chr9:136855434..136861951-chr9:136862866..136866695,10 | MCF-7 | breast: | |
| 4 | chr9:136858694..136861040-chr9:136863202..136865256,2 | MCF-7 | breast: | |
| 5 | chr9:136862110..136863707-chr9:136863725..136867446,4 | MCF-7 | breast: | |
| 6 | chr9:136856397..136858189-chr9:136860981..136863697,2 | K562 | blood: | |
| 7 | chr9:136856689..136859629-chr9:136860948..136863697,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| VAV2 | TF binding region |
| ENSG00000160293 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs457687 | chr9:136862636-136862637 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs560874427 | chr9:136862649-136862650 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs528685775 | chr9:136862665-136862666 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs574089270 | chr9:136862694-136862695 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs562273369 | chr9:136862701-136862702 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs552132019 | chr9:136862749-136862750 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs529466035 | chr9:136862790-136862791 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs377401464 | chr9:136862798-136862799 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs547636929 | chr9:136862877-136862878 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs566039480 | chr9:136862894-136862895 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs363944 | chr9:136862907-136862908 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs552050181 | chr9:136862914-136862915 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs363945 | chr9:136862929-136862930 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs148178250 | chr9:136862978-136862979 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs363948 | chr9:136862979-136862980 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs191651317 | chr9:136862997-136862998 | Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs112743204 | chr9:136863021-136863022 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs551350277 | chr9:136863053-136863054 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs180867633 | chr9:136863086-136863087 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs571871903 | chr9:136863093-136863094 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs530585322 | chr9:136863149-136863150 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs55656051 | chr9:136863172-136863173 | Weak transcription Flanking Bivalent TSS/Enh Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs200535571 | chr9:136863208-136863209 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs184505162 | chr9:136863262-136863263 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs573835212 | chr9:136863306-136863307 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs534822655 | chr9:136863321-136863322 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs553245060 | chr9:136863377-136863378 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs141992812 | chr9:136863382-136863383 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs371383934 | chr9:136863413-136863414 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs545350058 | chr9:136863465-136863466 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs564490004 | chr9:136863470-136863471 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs576374651 | chr9:136863489-136863490 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs111163052 | chr9:136863585-136863586 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs564845537 | chr9:136863590-136863591 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs112676525 | chr9:136863595-136863596 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs188854322 | chr9:136863610-136863611 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs562044149 | chr9:136863614-136863615 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs56652894 | chr9:136863654-136863655 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs111162583 | chr9:136863668-136863669 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs192645832 | chr9:136863673-136863674 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs377570302 | chr9:136863683-136863684 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs111163053 | chr9:136863692-136863693 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs529404666 | chr9:136863728-136863729 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs541214063 | chr9:136863756-136863757 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs7041056 | chr9:136863771-136863772 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs12378335 | chr9:136863835-136863836 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs7041178 | chr9:136863849-136863850 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs7041181 | chr9:136863859-136863860 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs111070389 | chr9:136863932-136863933 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs374374785 | chr9:136863937-136863938 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:88)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Lung cancer | 19147751 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 16585170 | CNVD |
| Ependymoma | 19289631 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Chordoma | 18071362 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Kleefstra Syndrome | 21538692 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Cancer | 21183584 | CNVD |
| Chronic myelomonocytic leukemia | 16760666 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Tuberous sclerosis | 19566914 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20581869 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Cancer | 17160897 | CNVD |
| Ependymoma | 20639864 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Idiopathic chronic pancreatitis | 21572526 | CNVD |
| Kleefstra syndrome | 22670141 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| 9q deletion syndrome | 16826528 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Non-syndromic sensorineural hearing loss | 19293338 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:136859600-136864800 | Weak transcription | Fetal Lung | lung |
| 2 | chr9:136859600-136875400 | Weak transcription | Spleen | Spleen |
| 3 | chr9:136860000-136864000 | Weak transcription | Brain Germinal Matrix | brain |
| 4 | chr9:136860200-136864200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 5 | chr9:136860200-136865200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 6 | chr9:136860400-136862800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr9:136860400-136862800 | Weak transcription | Fetal Brain Male | brain |
| 8 | chr9:136860400-136864000 | Weak transcription | Fetal Brain Female | brain |
| 9 | chr9:136860600-136863400 | Weak transcription | HSMM | muscle |
| 10 | chr9:136861000-136864800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 11 | chr9:136861200-136862800 | Enhancers | Fetal Muscle Leg | muscle |
| 12 | chr9:136862200-136862800 | Enhancers | Fetal Muscle Trunk | muscle |
| 13 | chr9:136862200-136868800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 14 | chr9:136862400-136864200 | Weak transcription | HSMMtube | muscle |
| 15 | chr9:136862800-136863000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 16 | chr9:136862800-136863000 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
| 17 | chr9:136862800-136863000 | Bivalent/Poised TSS | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 18 | chr9:136862800-136864000 | Weak transcription | Fetal Muscle Leg | muscle |
| 19 | chr9:136862800-136864800 | Weak transcription | Fetal Muscle Trunk | muscle |
| 20 | chr9:136862800-136865800 | Enhancers | Fetal Brain Male | brain |
| 21 | chr9:136863000-136863200 | Flanking Bivalent TSS/Enh | ES-UCSF4 Cell Line | embryonic stem cell |
| 22 | chr9:136863000-136863200 | Flanking Bivalent TSS/Enh | Breast Myoepithelial Primary Cells | Breast |
| 23 | chr9:136863400-136863600 | Enhancers | HSMM | muscle |
| 24 | chr9:136863600-136864000 | Weak transcription | HSMM | muscle |
