Variant report
| Variant | rs13422644 |
|---|---|
| Chromosome Location | chr2:58474907-58474908 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| EIF3FP3 | TF binding region |
| ENSG00000115392 | Chromatin interaction |
| ENSG00000273063 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs11889211 | 0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs17049425 | 0.86[AFR][1000 genomes] |
| rs17049429 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2192690 | 0.82[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4395240 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs56705143 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs56730649 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6725148 | 0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6732505 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs6735296 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs72810373 | 0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs72812357 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7594702 | 0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[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 | nsv999042 | chr2:58326123-58530903 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv535734 | chr2:58326123-58530903 | ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv1007527 | chr2:58386271-58477536 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 4 | nsv535735 | chr2:58386271-58477536 | Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 5 | nsv979333 | chr2:58472786-58476569 | Inactive region | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
