Variant report
| Variant | rs9316423 |
|---|---|
| Chromosome Location | chr13:49509190-49509191 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:49490731..49493144-chr13:49508201..49510336,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000265585 | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11148129 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs11148130 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2026027 | 0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4476073 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4941632 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs6561487 | 0.83[ASN][1000 genomes] |
| rs7324415 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7331168 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs766776 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7993904 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9526506 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs9535114 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9535115 | 0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs9535117 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9535118 | 0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9535119 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1049117 | chr13:49089476-49928945 | Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:49507600-49509800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
