Variant report
| Variant | nsv900895 |
|---|---|
| Chromosome Location | chr13:92694069-92745416 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:233)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No data |
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| Variant related genes | Relation type |
|---|---|
| RNU4ATAC3P | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7327060 | chr13:92696684-92696685 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs527393995 | chr13:92696737-92696738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7327242 | chr13:92696769-92696770 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs181946855 | chr13:92696777-92696778 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs539066638 | chr13:92696821-92696822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs117964934 | chr13:92696872-92696873 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs538968605 | chr13:92696874-92696875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs569623294 | chr13:92696990-92696991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535224125 | chr13:92697027-92697028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7325691 | chr13:92697032-92697033 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs375781983 | chr13:92697037-92697038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs77938530 | chr13:92697058-92697059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564667425 | chr13:92697068-92697069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7327753 | chr13:92697080-92697081 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs534569188 | chr13:92697108-92697109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs9560904 | chr13:92697122-92697123 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs142845907 | chr13:92697183-92697184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs543855310 | chr13:92697226-92697227 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs115065861 | chr13:92697266-92697267 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs116477941 | chr13:92697267-92697268 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs372219204 | chr13:92697290-92697291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs543355517 | chr13:92697302-92697303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs559673336 | chr13:92697317-92697318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs528709672 | chr13:92697342-92697343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs540739657 | chr13:92697357-92697358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs376746063 | chr13:92697385-92697386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs151062270 | chr13:92697386-92697387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs118068926 | chr13:92705422-92705423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs184015168 | chr13:92705503-92705504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs149213246 | chr13:92705505-92705506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs7325647 | chr13:92705511-92705512 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs565060246 | chr13:92705523-92705524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs530635878 | chr13:92705564-92705565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs544666879 | chr13:92705565-92705566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs143405212 | chr13:92705617-92705618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs530064894 | chr13:92705621-92705622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs147921034 | chr13:92705625-92705626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs9301774 | chr13:92705641-92705642 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs188892800 | chr13:92705649-92705650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs141762280 | chr13:92705656-92705657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs569398045 | chr13:92705682-92705683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs538076840 | chr13:92705687-92705688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs546852409 | chr13:92705750-92705751 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs550601561 | chr13:92705752-92705753 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs540016708 | chr13:92705771-92705772 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs192284780 | chr13:92705772-92705773 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs538732538 | chr13:92705776-92705777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs7490573 | chr13:92705805-92705806 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 49 | rs552999402 | chr13:92705822-92705823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs572913569 | chr13:92705841-92705842 | 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 |
| 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 |
| 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 |
| Melanoma | 20877625 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:92696600-92697000 | Enhancers | Liver | Liver |
| 2 | chr13:92696600-92697400 | Enhancers | Fetal Heart | heart |
| 3 | chr13:92705400-92707600 | Enhancers | Rectal Mucosa Donor 31 | rectum |
| 4 | chr13:92706000-92707600 | Enhancers | HepG2 | liver |
| 5 | chr13:92706400-92706800 | Enhancers | Fetal Intestine Small | intestine |
| 6 | chr13:92706400-92707600 | Enhancers | Liver | Liver |
| 7 | chr13:92727000-92727600 | Enhancers | Fetal Lung | lung |
| 8 | chr13:92734200-92735600 | Enhancers | Fetal Heart | heart |
