Variant report
| Variant | esv3430855 |
|---|---|
| Chromosome Location | chr13:62592601-62595149 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- 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 | chr13:62588294..62590815-chr13:62591297..62594105,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs367759494 | chr13:62594629-62594630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs553417211 | chr13:62594642-62594643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs578131167 | chr13:62594675-62594676 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539220797 | chr13:62594721-62594722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371283887 | chr13:62594736-62594737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557412846 | chr13:62594744-62594745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs185053286 | chr13:62594796-62594797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542649355 | chr13:62594797-62594798 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs9539390 | chr13:62594837-62594838 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs116620414 | chr13:62594844-62594845 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540355537 | chr13:62594845-62594846 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73499049 | chr13:62594854-62594855 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs532244842 | chr13:62594860-62594861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs74083743 | chr13:62594865-62594866 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs78640542 | chr13:62594890-62594891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs372667115 | chr13:62594898-62594899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs548980874 | chr13:62594899-62594900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs567357557 | chr13:62594913-62594914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs190290798 | chr13:62594925-62594926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs368965666 | chr13:62594926-62594927 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs546826766 | chr13:62594969-62594970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs571707720 | chr13:62595010-62595011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs538871307 | chr13:62595021-62595022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs557485329 | chr13:62595057-62595058 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs552554745 | chr13:62595063-62595064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs182022079 | chr13:62595098-62595099 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs536977288 | chr13:62595122-62595123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs555277492 | chr13:62595136-62595137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs565728680 | chr13:62595137-62595138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs9598415 | chr13:62595145-62595146 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:95)
| 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | 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 |
| Squamous cell cancer | 20885788 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Paraganglioma | 21461997 | CNVD |
| Pheochromocytoma | 21461997 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Retinoblastoma | 19183342 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Merkel cell carcinoma | 19020549 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Anaplastic thyroid cancer | 18753363 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:62594600-62595400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
