Variant report
| Variant | rs12814178 |
|---|---|
| Chromosome Location | chr12:51436074-51436075 |
| 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 | chr12:51414500..51424231-chr12:51435741..51444321,19 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000110911 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs150909 | 0.81[AFR][1000 genomes] |
| rs161045 | 0.83[AFR][1000 genomes] |
| rs161047 | 0.83[AFR][1000 genomes] |
| rs224564 | 0.81[AFR][1000 genomes] |
| rs224566 | 0.81[AFR][1000 genomes] |
| rs224569 | 0.81[AFR][1000 genomes] |
| rs224573 | 0.85[AFR][1000 genomes] |
| rs224574 | 0.81[AFR][1000 genomes] |
| rs224576 | 0.85[AFR][1000 genomes] |
| rs224585 | 0.81[AFR][1000 genomes] |
| rs224590 | 0.84[AFR][1000 genomes] |
| rs224593 | 0.85[AFR][1000 genomes] |
| rs390424 | 0.81[AFR][1000 genomes] |
| rs394384 | 0.81[AFR][1000 genomes] |
| rs4238110 | 0.80[AFR][1000 genomes] |
| rs435965 | 0.81[AFR][1000 genomes] |
| rs445520 | 0.81[AFR][1000 genomes] |
| rs452587 | 0.81[AFR][1000 genomes] |
| rs4768875 | 0.81[AFR][1000 genomes] |
| rs7299484 | 0.90[AFR][1000 genomes] |
| rs7974923 | 0.81[AFR][1000 genomes] |
| rs7975628 | 0.81[AFR][1000 genomes] |
| rs9739943 | 0.82[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 | esv3414501 | chr12:51174503-51534707 | Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
| 2 | esv34039 | chr12:51326702-51671911 | Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 93 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12814178 | SLC11A2 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:51435600-51440800 | Weak transcription | HepG2 | liver |
| 2 | chr12:51436000-51437400 | Weak transcription | Hela-S3 | cervix |
