Variant report
| Variant | rs74082416 |
|---|---|
| Chromosome Location | chr12:30631092-30631093 |
| 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 | chr12:30630764..30632719-chr12:30642693..30644832,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10506068 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs10771731 | 0.96[ASN][1000 genomes] |
| rs10771733 | 0.98[ASN][1000 genomes] |
| rs10843764 | 0.98[ASN][1000 genomes] |
| rs10843768 | 0.80[ASN][1000 genomes] |
| rs12303020 | 0.86[ASN][1000 genomes] |
| rs12582764 | 0.88[EUR][1000 genomes] |
| rs1506392 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16906414 | 0.85[EUR][1000 genomes] |
| rs16906436 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs16906457 | 0.96[ASN][1000 genomes] |
| rs2133689 | 0.97[ASN][1000 genomes] |
| rs4931340 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4931341 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4931344 | 0.86[ASN][1000 genomes] |
| rs60625006 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs61921064 | 0.84[EUR][1000 genomes] |
| rs6487912 | 0.84[EUR][1000 genomes] |
| rs7960523 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7961829 | 0.94[AMR][1000 genomes];1.00[EUR][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 | esv3343291 | chr12:30455597-30992837 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv1050233 | chr12:30590071-30670919 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30624800-30635400 | Weak transcription | Liver | Liver |
