Variant report
| Variant | rs2705165 |
|---|---|
| Chromosome Location | chr12:48895438-48895439 |
| allele | G/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 | chr12:48888880..48891853-chr12:48895392..48897603,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258121 | TF binding region |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10875832 | 0.84[EUR][1000 genomes] |
| rs11168572 | 0.81[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs2464563 | 0.81[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2464564 | 0.81[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2464566 | 0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2468348 | 0.80[AFR][1000 genomes];0.81[ASN][1000 genomes] |
| rs2468349 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2468350 | 0.84[ASN][1000 genomes] |
| rs2705135 | 0.81[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2705157 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2705160 | 0.83[AFR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2712611 | 0.88[EUR][1000 genomes] |
| rs2731072 | 0.91[EUR][1000 genomes] |
| rs2731074 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2731085 | 0.83[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | esv3402619 | chr12:48893535-48896233 | Inactive region | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
