Variant report
| Variant | esv1732258 |
|---|---|
| Chromosome Location | chr11:16582097-16582149 |
| 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 | chr11:16573525..16577119-chr11:16577691..16582391,5 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs74593604 | chr11:16582097-16582098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs543996536 | chr11:16582104-16582105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183504395 | chr11:16582105-16582106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546057489 | chr11:16582107-16582108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562667835 | chr11:16582108-16582109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189407407 | chr11:16582111-16582112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374088418 | chr11:16582128-16582129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs558054601 | chr11:16582129-16582130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs575929804 | chr11:16582138-16582139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs543443537 | chr11:16582142-16582143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs34632936 | chr11:16582143-16582144 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs368247525 | chr11:16582147-16582148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs61883865 | chr11:16582148-16582149 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21858162 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Uterine serous papillary cancer | 19536090 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:16573000-16594600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
| 2 | chr11:16580000-16582800 | Weak transcription | Psoas Muscle | Psoas |
| 3 | chr11:16581000-16583000 | Weak transcription | Fetal Heart | heart |
| 4 | chr11:16581400-16583000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 5 | chr11:16581800-16584200 | Weak transcription | Left Ventricle | heart |
| 6 | chr11:16581800-16584200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
