Variant report
| Variant | esv3447713 |
|---|---|
| Chromosome Location | chr16:70961801-70961961 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs112904817 | chr16:70961808-70961809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548565998 | chr16:70961831-70961832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543719982 | chr16:70961844-70961845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs201801378 | chr16:70961856-70961857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs566925495 | chr16:70961858-70961859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560282012 | chr16:70961864-70961865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201070029 | chr16:70961865-70961866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200907681 | chr16:70961872-70961873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112363132 | chr16:70961873-70961874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs546688324 | chr16:70961880-70961881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs2968371 | chr16:70961883-70961884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs57186604 | chr16:70961911-70961912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 |
| small cell lung cancer | 20016488 | 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 |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:70952600-70973000 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr16:70956200-70969200 | Weak transcription | Fetal Brain Female | brain |
| 3 | chr16:70956400-70964800 | Weak transcription | Brain Substantia Nigra | brain |
| 4 | chr16:70956400-70970600 | Weak transcription | Brain Cingulate Gyrus | brain |
| 5 | chr16:70956600-70970600 | Weak transcription | Brain Angular Gyrus | brain |
| 6 | chr16:70956600-70970800 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 7 | chr16:70956800-70966800 | Weak transcription | Brain Anterior Caudate | brain |
| 8 | chr16:70957000-70971800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 9 | chr16:70958800-70966600 | Weak transcription | Brain Germinal Matrix | brain |
| 10 | chr16:70961600-70965200 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 11 | chr16:70961800-70967200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
