Variant report
| Variant | esv3448820 |
|---|---|
| Chromosome Location | chr16:71296064-71296574 |
| 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 | chr16:71295134..71297255-chr16:71312109..71314891,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs572632996 | chr16:71296065-71296066 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs371015153 | chr16:71296118-71296119 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs121309 | chr16:71296137-71296138 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs113638353 | chr16:71296281-71296282 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs573959247 | chr16:71296302-71296303 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs74494157 | chr16:71296315-71296316 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs549109695 | chr16:71296316-71296317 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs121308 | chr16:71296334-71296335 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs71403841 | chr16:71296369-71296370 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs190876525 | chr16:71296450-71296451 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs78212174 | chr16:71296460-71296461 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs138966457 | chr16:71296484-71296485 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs117629894 | chr16:71296535-71296536 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs142159246 | chr16:71296549-71296550 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563721477 | chr16:71296569-71296570 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| 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 |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chordoma | 18071362 | 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 myeloid leukemia | 16864856 | CNVD |
| Infiltrating lobular breast cancer | 19191266 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Melanoma | 22183965 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:71290200-71317200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 2 | chr16:71291800-71296400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 3 | chr16:71292800-71297400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 4 | chr16:71295000-71297600 | Enhancers | Brain Germinal Matrix | brain |
| 5 | chr16:71296400-71298400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
