Variant report
| Variant | esv3410793 |
|---|---|
| Chromosome Location | chr13:63261251-63263799 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs527508518 | chr13:63263039-63263040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530169011 | chr13:63263045-63263046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189816628 | chr13:63263056-63263057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs376786660 | chr13:63263107-63263108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200450914 | chr13:63263108-63263109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140468358 | chr13:63263109-63263110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs116778831 | chr13:63263110-63263111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs114475342 | chr13:63263112-63263113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181837998 | chr13:63263118-63263119 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs551078954 | chr13:63263127-63263128 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569188810 | chr13:63263154-63263155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs59198117 | chr13:63263157-63263158 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs546680471 | chr13:63263226-63263227 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs185065079 | chr13:63263246-63263247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs555565050 | chr13:63263261-63263262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs566800392 | chr13:63263262-63263263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs534127314 | chr13:63263307-63263308 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs558770901 | chr13:63263309-63263310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577010884 | chr13:63263315-63263316 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs543934145 | chr13:63263333-63263334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs574002399 | chr13:63263388-63263389 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs574371476 | chr13:63263426-63263427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs541773830 | chr13:63263432-63263433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs560195974 | chr13:63263437-63263438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs189396793 | chr13:63263445-63263446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs180966177 | chr13:63263455-63263456 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs564307199 | chr13:63263469-63263470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs531515033 | chr13:63263471-63263472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs113387411 | chr13:63263515-63263516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs71098966 | chr13:63263516-63263517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs551119666 | chr13:63263523-63263524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs74085307 | chr13:63263598-63263599 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs530051751 | chr13:63263609-63263610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs570812364 | chr13:63263634-63263635 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs185197652 | chr13:63263734-63263735 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| 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 |
| Schizophrenia | 20967226 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Autism | 20531469 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:63263000-63265000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr13:63263200-63264400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr13:63263200-63266000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr13:63263400-63264000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 5 | chr13:63263600-63264400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr13:63263600-63265200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
