Variant report
| Variant | esv1822563 |
|---|---|
| Chromosome Location | chr13:62649010-62657335 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-PCDH20-14 | chr13:62655235-62655462 | NONHSAT034139 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs575731874 | chr13:62652051-62652052 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542734820 | chr13:62652061-62652062 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs79629475 | chr13:62652078-62652079 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs7322032 | chr13:62652084-62652085 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs540390423 | chr13:62652120-62652121 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs565241544 | chr13:62652149-62652150 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532693310 | chr13:62652166-62652167 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs114769071 | chr13:62652168-62652169 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181468180 | chr13:62652193-62652194 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187067984 | chr13:62652205-62652206 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs548002329 | chr13:62652237-62652238 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs79939294 | chr13:62652285-62652286 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs77829914 | chr13:62652306-62652307 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558736330 | chr13:62652329-62652330 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs543091760 | chr13:62652332-62652333 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570804457 | chr13:62652344-62652345 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs537738477 | chr13:62652348-62652349 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs9670976 | chr13:62655236-62655237 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs550694995 | chr13:62655278-62655279 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 20 | rs550268867 | chr13:62655346-62655347 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 21 | rs568527395 | chr13:62655356-62655357 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 22 | rs536061780 | chr13:62655374-62655375 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 23 | rs548010107 | chr13:62655404-62655405 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 24 | rs189446946 | chr13:62655434-62655435 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 25 | rs533425843 | chr13:62655437-62655438 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 26 | rs77010948 | chr13:62655453-62655454 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 27 | rs181467313 | chr13:62655460-62655461 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:94)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:62652000-62652400 | Active TSS | Fetal Brain Male | brain |
