Variant report
| Variant | esv2830242 |
|---|---|
| Chromosome Location | chr13:89815375-89838970 |
| 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-SLITRK6-24 | chr13:89815360-89815434 | NONHSAT034620 |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2774188 | chr13:89815375-89815376 | Active TSS | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs568239464 | chr13:89815386-89815387 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs138507827 | chr13:89815401-89815402 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs314388 | chr13:89815405-89815406 | Active TSS | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs572643431 | chr13:89815409-89815410 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs546522709 | chr13:89815421-89815422 | Active TSS | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs558493670 | chr13:89815444-89815445 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs576670202 | chr13:89815455-89815456 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140243501 | chr13:89815474-89815475 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs78103180 | chr13:89815485-89815486 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs573707041 | chr13:89815494-89815495 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540654574 | chr13:89815501-89815502 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs559341332 | chr13:89815522-89815523 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533070661 | chr13:89815547-89815548 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs148016792 | chr13:89815571-89815572 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs563249670 | chr13:89815575-89815576 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs112982898 | chr13:89815578-89815579 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs530582701 | chr13:89815587-89815588 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs7490702 | chr13:89815588-89815589 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs314389 | chr13:89815627-89815628 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs141729666 | chr13:89815706-89815707 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs9555851 | chr13:89815707-89815708 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs558670178 | chr13:89815732-89815733 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs73591050 | chr13:89815774-89815775 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs150574713 | chr13:89815799-89815800 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs566794993 | chr13:89815815-89815816 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs187469274 | chr13:89815880-89815881 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs576832453 | chr13:89815908-89815909 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs9555852 | chr13:89815919-89815920 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs138830716 | chr13:89815940-89815941 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs191829661 | chr13:89815975-89815976 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs183699133 | chr13:89815986-89815987 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs35000913 | chr13:89822044-89822045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs570225266 | chr13:89822096-89822097 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs369590757 | chr13:89822101-89822102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs533696925 | chr13:89822105-89822106 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs545455899 | chr13:89822106-89822107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs562507289 | chr13:89822108-89822109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs555411755 | chr13:89822131-89822132 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs573679400 | chr13:89822138-89822139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs559960105 | chr13:89822143-89822144 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs147003569 | chr13:89822172-89822173 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs552589466 | chr13:89822199-89822200 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs577513124 | chr13:89822231-89822232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs531269106 | chr13:89822244-89822245 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs138229662 | chr13:89822267-89822268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs79489661 | chr13:89822296-89822297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs544855683 | chr13:89822332-89822333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs117310060 | chr13:89822357-89822358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs530703846 | chr13:89822383-89822384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:88)
| 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 |
| Developmental delay | 21147756 | 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 |
| High-grade prostatic intraepithelial neoplasia | 16573809 | 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 |
| abnormal development | 18461090 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | 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 |
| Mental retardation | 17847001 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| coloboma | 21285886 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-small cell lung cancer | 16651412 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Autism | 20841430 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:89813800-89816000 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr13:89815000-89815600 | Active TSS | Placenta | Placenta |
| 3 | chr13:89815200-89815800 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr13:89822000-89822600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr13:89822200-89822600 | Enhancers | Adipose Nuclei | Adipose |
| 6 | chr13:89822200-89822600 | Enhancers | Fetal Heart | heart |
