Variant report
| Variant | esv2367371 |
|---|---|
| Chromosome Location | chr12:9504781-9505202 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:9493453..9495524-chr12:9502233..9505001,2 | K562 | blood: |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CLEC2D-5 | chr12:9504271-9504944 | NONHSAT026731 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs138126591 | chr12:9504825-9504826 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs113778106 | chr12:9504830-9504831 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs546777713 | chr12:9504866-9504867 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs368412509 | chr12:9504913-9504914 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs376108437 | chr12:9504945-9504946 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs77657421 | chr12:9504969-9504970 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6144607 | chr12:9504970-9504971 | Weak transcription Strong transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs144434316 | chr12:9505012-9505013 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12309329 | chr12:9505013-9505014 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 10 | rs549090794 | chr12:9505063-9505064 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs111719819 | chr12:9505077-9505078 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs7302974 | chr12:9505139-9505140 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs557709329 | chr12:9505152-9505153 | ZNF genes & repeats Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Emphysema | 19352772 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Epilepsy | 21858020 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Alzheimer''s disease | 17160897 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 21611746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:9498600-9505000 | Strong transcription | Fetal Lung | lung |
| 2 | chr12:9499000-9506000 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
| 3 | chr12:9502800-9507200 | Weak transcription | Fetal Heart | heart |
| 4 | chr12:9503200-9506000 | Weak transcription | Stomach Smooth Muscle | stomach |
| 5 | chr12:9503400-9506000 | Enhancers | HepG2 | liver |
| 6 | chr12:9503800-9504800 | Weak transcription | Fetal Thymus | thymus |
| 7 | chr12:9503800-9505800 | Weak transcription | Thymus | Thymus |
| 8 | chr12:9504000-9505200 | Strong transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 9 | chr12:9504200-9505000 | Weak transcription | Primary hematopoietic stem cells | blood |
| 10 | chr12:9504400-9506800 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 11 | chr12:9505000-9506600 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
| 12 | chr12:9505000-9508000 | ZNF genes & repeats | Fetal Lung | lung |
| 13 | chr12:9505200-9507000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
