Variant report
| Variant | rs12518753 |
|---|---|
| Chromosome Location | chr5:178125846-178125847 |
| allele | C/G |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:178124799..178126399-chr5:178156119..178159054,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000169131 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs1000057 | 0.92[ASN][1000 genomes] |
| rs10042073 | 0.92[ASN][1000 genomes] |
| rs10072060 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13188788 | 0.85[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs1984703 | 0.92[ASN][1000 genomes] |
| rs2078257 | 0.92[ASN][1000 genomes] |
| rs3927097 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4246821 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs6898275 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7704813 | 0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7711731 | 0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7715476 | 0.92[ASN][1000 genomes] |
| rs7736628 | 0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs931056 | 0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948342 | chr5:177384542-178168737 | Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 141 gene(s) | inside rSNPs | diseases |
| 2 | nsv1031666 | chr5:177988601-178236068 | Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv1023697 | chr5:178070594-178126328 | ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv537972 | chr5:178070594-178126328 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv5155 | chr5:178075100-178132799 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv883217 | chr5:178099758-178193081 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
