Variant report
| Variant | rs72709388 |
|---|---|
| Chromosome Location | chr1:173679638-173679639 |
| allele | G/T |
| 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:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000208317 | Chromatin interaction |
| ENSG00000234741 | Chromatin interaction |
| ENSG00000076321 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs11808435 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs34591026 | 1.00[AFR][1000 genomes] |
| rs4628558 | 1.00[AFR][1000 genomes] |
| rs6672741 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs72709309 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs72709377 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs72709378 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs72709383 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs72726946 | 1.00[AFR][1000 genomes] |
| rs72726949 | 1.00[AFR][1000 genomes] |
| rs72726950 | 1.00[AFR][1000 genomes] |
| rs7367559 | 1.00[AFR][1000 genomes];0.97[EUR][1000 genomes] |
| rs9662213 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[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 | nsv1012384 | chr1:173614816-173974426 | Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 294 gene(s) | inside rSNPs | diseases |
| 2 | nsv1014827 | chr1:173653453-173692470 | Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:173679600-173680200 | Weak transcription | K562 | blood |
