Variant report
| Variant | rs4514490 |
|---|---|
| Chromosome Location | chr12:48313650-48313651 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111424 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10875698 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs11168302 | 0.86[AFR][1000 genomes] |
| rs11168303 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11168304 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11168305 | 0.86[AFR][1000 genomes] |
| rs34438994 | 1.00[EUR][1000 genomes] |
| rs4077869 | 0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4411327 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57419443 | 1.00[EUR][1000 genomes] |
| rs58915362 | 0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61553170 | 1.00[EUR][1000 genomes] |
| rs7302038 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs74088121 | 0.81[ASN][1000 genomes] |
| rs7970168 | 0.90[AFR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7975847 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7979360 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv428589 | chr12:48282920-48341192 | Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
