Variant report
| Variant | rs12187307 |
|---|---|
| Chromosome Location | chr5:112288325-112288326 |
| allele | C/T |
| 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 | chr5:112256921..112258540-chr5:112287451..112289166,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000129625 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10447234 | 0.89[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10515450 | 1.00[ASN][1000 genomes] |
| rs10515451 | 1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10515452 | 1.00[CEU][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11241186 | 1.00[CEU][hapmap];0.80[EUR][1000 genomes] |
| rs12152818 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12152991 | 1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12188113 | 0.82[CEU][hapmap];1.00[ASN][1000 genomes] |
| rs17135215 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17553240 | 0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4145650 | 0.82[YRI][hapmap] |
| rs55915006 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56209573 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56315627 | 0.97[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs56364425 | 1.00[ASN][1000 genomes] |
| rs56398453 | 0.83[ASN][1000 genomes] |
| rs58304718 | 0.92[EUR][1000 genomes] |
| rs73789249 | 1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs73789251 | 1.00[ASN][1000 genomes] |
| rs73789252 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73789253 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73789254 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1029271 | chr5:112113308-112325943 | Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv599394 | chr5:112185491-112446323 | Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 3 | nsv1019756 | chr5:112242315-112325943 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
