Variant report
| Variant | esv3330821 |
|---|---|
| Chromosome Location | chr13:91836666-91836872 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:91834823..91837428-chr13:91840778..91842501,2 | K562 | blood: | |
| 2 | chr13:91835633..91837291-chr13:91999686..92001869,2 | K562 | blood: | |
| 3 | chr13:91834530..91837118-chr13:91998707..92002596,3 | K562 | blood: | |
| 4 | chr13:91835233..91837472-chr13:91842589..91844958,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000215417 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:12 , 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 | rs577077566 | chr13:91836667-91836668 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs149542923 | chr13:91836682-91836683 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs144097656 | chr13:91836696-91836697 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs182509008 | chr13:91836704-91836705 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs287532 | chr13:91836744-91836745 | Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs148308733 | chr13:91836761-91836762 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs528784540 | chr13:91836778-91836779 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs78678767 | chr13:91836779-91836780 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs571766960 | chr13:91836786-91836787 | Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs201282946 | chr13:91836813-91836814 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs538822322 | chr13:91836842-91836843 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs188021904 | chr13:91836872-91836873 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:86)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Cancer | 21220470 | CNVD |
| Cancer | 21183584 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Mantle cell lymphoma | 19690137 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| coloboma | 21285886 | CNVD |
| Cancer | 20164920 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:91836000-91838000 | Enhancers | Fetal Kidney | kidney |
| 2 | chr13:91836000-91838200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr13:91836000-91838400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 4 | chr13:91836400-91836800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 5 | chr13:91836400-91837400 | Enhancers | Fetal Muscle Leg | muscle |
| 6 | chr13:91836600-91836800 | Enhancers | Fetal Intestine Large | intestine |
| 7 | chr13:91836600-91837000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 8 | chr13:91836600-91837000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 9 | chr13:91836600-91837000 | Enhancers | Brain Angular Gyrus | brain |
| 10 | chr13:91836600-91837000 | Enhancers | Brain Substantia Nigra | brain |
| 11 | chr13:91836800-91837400 | Enhancers | Primary hematopoietic stem cells | blood |
| 12 | chr13:91836800-91845000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
