Variant report
| Variant | rs12654426 |
|---|---|
| Chromosome Location | chr5:103368387-103368388 |
| 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 | chr5:103368340..103370604-chr5:103378682..103380421,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs11242515 | 0.82[EUR][1000 genomes] |
| rs12654548 | 0.80[EUR][1000 genomes] |
| rs12655758 | 0.97[ASN][1000 genomes] |
| rs1289224 | 0.80[ASN][1000 genomes] |
| rs1420862 | 1.00[ASN][1000 genomes] |
| rs1420863 | 0.85[ASN][1000 genomes] |
| rs1420868 | 0.84[ASN][1000 genomes] |
| rs1420870 | 0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1592635 | 0.84[ASN][1000 genomes] |
| rs1990745 | 0.97[ASN][1000 genomes] |
| rs2403366 | 0.81[ASN][1000 genomes] |
| rs4703279 | 0.83[EUR][1000 genomes] |
| rs4703280 | 0.95[ASN][1000 genomes] |
| rs4703281 | 0.80[ASN][1000 genomes] |
| rs55779157 | 0.96[ASN][1000 genomes] |
| rs60305106 | 0.99[ASN][1000 genomes] |
| rs67686311 | 0.83[AFR][1000 genomes];0.99[ASN][1000 genomes] |
| rs68024865 | 0.80[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs6887182 | 0.83[ASN][1000 genomes] |
| rs7443549 | 0.84[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs7735978 | 0.99[ASN][1000 genomes] |
| rs888257 | 0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1025859 | chr5:102744479-103710290 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv537833 | chr5:102744479-103710290 | Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv882524 | chr5:103237745-104019292 | Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv882525 | chr5:103279166-103375179 | ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | nsv1027818 | chr5:103318123-103445127 | ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:103368200-103369200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
