Variant report
| Variant | esv3378706 |
|---|---|
| Chromosome Location | chr13:69293351-69297149 |
| 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 | chr13:69290266..69293012-chr13:69294530..69297103,2 | K562 | blood: |
| 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 | rs530507917 | chr13:69293385-69293386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550782245 | chr13:69293394-69293395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9541513 | chr13:69293476-69293477 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs529883928 | chr13:69293490-69293491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs546925843 | chr13:69293512-69293513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs527452496 | chr13:69293513-69293514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs146315701 | chr13:69293536-69293537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs287487 | chr13:69293544-69293545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs551476395 | chr13:69293545-69293546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs571739907 | chr13:69293553-69293554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537170238 | chr13:69293597-69293598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs570880909 | chr13:69293614-69293615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs187939714 | chr13:69293621-69293622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs377314359 | chr13:69293642-69293643 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs192300278 | chr13:69293698-69293699 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537952700 | chr13:69293717-69293718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs184359220 | chr13:69293725-69293726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs150018614 | chr13:69293749-69293750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs544637158 | chr13:69293752-69293753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs564706190 | chr13:69293811-69293812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs188519555 | chr13:69293850-69293851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs9592563 | chr13:69293870-69293871 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs561000416 | chr13:69293913-69293914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs568350329 | chr13:69293934-69293935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs529918627 | chr13:69293942-69293943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs540426239 | chr13:69293949-69293950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs560475983 | chr13:69293951-69293952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs532434316 | chr13:69294007-69294008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs552417707 | chr13:69294010-69294011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs571567086 | chr13:69294036-69294037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs115607750 | chr13:69294052-69294053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs117714421 | chr13:69294081-69294082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs145235535 | chr13:69294096-69294097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs192744555 | chr13:69294097-69294098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs553133532 | chr13:69294126-69294127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs149197168 | chr13:69294153-69294154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs538986059 | chr13:69294200-69294201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs185005896 | chr13:69294215-69294216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs138388862 | chr13:69294218-69294219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs554016675 | chr13:69294219-69294220 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs575140372 | chr13:69294220-69294221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs562048003 | chr13:69294227-69294228 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs9529414 | chr13:69294231-69294232 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 44 | rs367737657 | chr13:69294330-69294331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs534242134 | chr13:69294343-69294344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs371679751 | chr13:69294390-69294391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs558371922 | chr13:69294391-69294392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs115883186 | chr13:69294395-69294396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs541332885 | chr13:69294402-69294403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs560409107 | chr13:69294461-69294462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:100)
| 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 |
| Breast cancer | 22737080 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:69286800-69297000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr13:69289400-69301400 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 3 | chr13:69290000-69296800 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 4 | chr13:69290800-69296600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 5 | chr13:69290800-69301200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr13:69296600-69297200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr13:69296800-69297000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 8 | chr13:69296800-69297200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 9 | chr13:69296800-69297200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 10 | chr13:69296800-69297200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 11 | chr13:69296800-69297400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 12 | chr13:69296800-69297400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 13 | chr13:69297000-69297200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 14 | chr13:69297000-69297200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
