Variant report
| Variant | rs12313050 |
|---|---|
| Chromosome Location | chr12:26006708-26006709 |
| allele | A/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 | chr12:26001348..26002904-chr12:26005653..26008250,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10505984 | 0.85[AFR][1000 genomes] |
| rs10842622 | 0.94[ASN][1000 genomes] |
| rs10842623 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10842624 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs10842626 | 0.85[AFR][1000 genomes] |
| rs10842627 | 0.94[EUR][1000 genomes] |
| rs11048300 | 0.96[EUR][1000 genomes] |
| rs11048302 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11048303 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11048304 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs11048305 | 0.94[EUR][1000 genomes] |
| rs11048306 | 0.85[AFR][1000 genomes] |
| rs11048309 | 0.93[EUR][1000 genomes] |
| rs11048315 | 0.83[EUR][1000 genomes] |
| rs12227123 | 0.96[EUR][1000 genomes] |
| rs12230489 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12306745 | 0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12582074 | 0.93[ASN][1000 genomes] |
| rs1462717 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1462719 | 0.85[AFR][1000 genomes] |
| rs16929496 | 0.96[ASN][1000 genomes] |
| rs16929533 | 0.97[ASN][1000 genomes] |
| rs16929543 | 0.97[ASN][1000 genomes] |
| rs16929569 | 0.93[ASN][1000 genomes] |
| rs61539654 | 0.97[ASN][1000 genomes] |
| rs66520255 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs73086135 | 0.83[EUR][1000 genomes] |
| rs73086136 | 0.83[EUR][1000 genomes] |
| rs73086141 | 0.83[EUR][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 | esv2758300 | chr12:25992331-26161116 | Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 2 | esv2759886 | chr12:25992331-26161116 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 3 | nsv522358 | chr12:26006066-26013013 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:26004800-26007400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 2 | chr12:26005600-26007400 | Enhancers | Liver | Liver |
| 3 | chr12:26006600-26011400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
