Variant report
| Variant | esv1238147 |
|---|---|
| Chromosome Location | chr1:247251305-247251306 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:247093857..247095949-chr1:247250979..247252849,2 | K562 | blood: | |
| 2 | chr1:247249938..247251976-chr1:247256822..247258390,2 | K562 | blood: | |
| 3 | chr1:247240160..247243836-chr1:247246950..247251614,4 | K562 | blood: | |
| 4 | chr1:247249794..247251374-chr1:247261131..247263722,2 | K562 | blood: | |
| 5 | chr1:247250401..247252654-chr1:247266037..247268537,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188295 | chromatin interactions |
| ENSG00000135747 | chromatin interactions |
| ENSG00000153207 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | rs71566692 | chr1:247251305-247251306 | Weak transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs77242374 | chr1:247251306-247251307 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:30)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Intracranial tumor | 16823260 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Urothelial tumor | 18831757 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cancer | 17060936 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cutaneous malignant melanoma | 18794153 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Fibroblasts | 17951408 | CNVD |
| Lung cancer | 17951408 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:247248800-247253000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr1:247251000-247257200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
