Variant report
| Variant | esv2753402 |
|---|---|
| Chromosome Location | chr13:69690558-69712365 |
| 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 | chr13:69682184..69685154-chr13:69690217..69692966,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs572965329 | chr13:69703216-69703217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190438215 | chr13:69703229-69703230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs540348215 | chr13:69703277-69703278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs182905715 | chr13:69703317-69703318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558305777 | chr13:69703324-69703325 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs561623391 | chr13:69703330-69703331 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs146820740 | chr13:69703349-69703350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs528720821 | chr13:69703351-69703352 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188009781 | chr13:69703369-69703370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs377129561 | chr13:69703372-69703373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs552190371 | chr13:69703395-69703396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs565641937 | chr13:69703401-69703402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529758155 | chr13:69703446-69703447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs532828421 | chr13:69703473-69703474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs569187715 | chr13:69703493-69703494 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs538192962 | chr13:69703497-69703498 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs111858649 | chr13:69703499-69703500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs555260840 | chr13:69703506-69703507 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs568534633 | chr13:69703537-69703538 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs192386266 | chr13:69703553-69703554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs76970961 | chr13:69703841-69703842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs375825103 | chr13:69703852-69703853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs187769247 | chr13:69703872-69703873 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs369072458 | chr13:69703876-69703877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs544169312 | chr13:69703882-69703883 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs545812073 | chr13:69703895-69703896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs556222886 | chr13:69703951-69703952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs143764919 | chr13:69704027-69704028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs551045372 | chr13:69704066-69704067 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs148129310 | chr13:69704067-69704068 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs569338175 | chr13:69704144-69704145 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs562036206 | chr13:69704155-69704156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs141042313 | chr13:69704165-69704166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs540834308 | chr13:69704167-69704168 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs11416250 | chr13:69704183-69704184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs397784268 | chr13:69704192-69704193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs398117499 | chr13:69704193-69704194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs373871048 | chr13:69704205-69704206 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs78793017 | chr13:69704397-69704398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs116513559 | chr13:69704420-69704421 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs552140834 | chr13:69704438-69704439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs150278507 | chr13:69704466-69704467 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs192337405 | chr13:69704481-69704482 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs548555663 | chr13:69704516-69704517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs139333164 | chr13:69704523-69704524 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs534121709 | chr13:69704528-69704529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs117011831 | chr13:69704542-69704543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs553106367 | chr13:69704641-69704642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs570540442 | chr13:69704696-69704697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs578156681 | chr13:69704730-69704731 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:96)
| 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 |
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:69703200-69704800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 2 | chr13:69703400-69703800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr13:69703600-69704000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr13:69703600-69704000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 5 | chr13:69703800-69704200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
