Variant report
| Variant | esv3426821 |
|---|---|
| Chromosome Location | chr16:76473201-76473550 |
| 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 | chr16:76472874..76474659-chr16:76475007..76477052,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs147297951 | chr16:76473217-76473218 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142082891 | chr16:76473229-76473230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs374708640 | chr16:76473233-76473234 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9889083 | chr16:76473243-76473244 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs536308795 | chr16:76473256-76473257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs553425381 | chr16:76473285-76473286 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201952613 | chr16:76473308-76473309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139600208 | chr16:76473314-76473315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs545367143 | chr16:76473319-76473320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs564075992 | chr16:76473396-76473397 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs577486045 | chr16:76473409-76473410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs13332141 | chr16:76473411-76473412 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs1395488 | chr16:76473438-76473439 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs559325413 | chr16:76473445-76473446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548851369 | chr16:76473446-76473447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs189041669 | chr16:76473460-76473461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs181752231 | chr16:76473474-76473475 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs551361070 | chr16:76473516-76473517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs114773480 | chr16:76473530-76473531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Melanoma | 22183965 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Poland''s syndrome | 22110015 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Lung cancer | 24585490 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:76453000-76475000 | Weak transcription | Brain Cingulate Gyrus | brain |
| 2 | chr16:76461400-76474600 | Weak transcription | Brain Substantia Nigra | brain |
| 3 | chr16:76466800-76474400 | Weak transcription | Brain Hippocampus Middle | brain |
