Variant report
| Variant | rs73940379 |
|---|---|
| Chromosome Location | chr2:56228541-56228542 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr2:56228469-56228667 | HepG2 | liver: | n/a | n/a |
| 2 | MAFF | chr2:56228463-56228576 | HepG2 | liver: | n/a | n/a |
| 3 | MAFK | chr2:56228440-56228668 | HepG2 | liver: | n/a | n/a |
| 4 | MAFF | chr2:56228462-56228584 | K562 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MIR216B | TF binding region |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10185410 | 1.00[AMR][1000 genomes] |
| rs10187691 | 1.00[AMR][1000 genomes] |
| rs10191821 | 1.00[AMR][1000 genomes] |
| rs10193578 | 1.00[AMR][1000 genomes] |
| rs10197914 | 1.00[AMR][1000 genomes] |
| rs10200020 | 1.00[AMR][1000 genomes] |
| rs13390181 | 1.00[AMR][1000 genomes] |
| rs13390742 | 1.00[AMR][1000 genomes] |
| rs13398296 | 1.00[AMR][1000 genomes] |
| rs13398763 | 1.00[AMR][1000 genomes] |
| rs13406874 | 0.91[AFR][1000 genomes] |
| rs13426058 | 0.80[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs17047345 | 1.00[AMR][1000 genomes] |
| rs2868442 | 1.00[AMR][1000 genomes] |
| rs6724301 | 1.00[AMR][1000 genomes] |
| rs6726939 | 1.00[AMR][1000 genomes] |
| rs6734396 | 0.96[AFR][1000 genomes] |
| rs6743905 | 1.00[AMR][1000 genomes] |
| rs73940374 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73940376 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73940377 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73940378 | 0.96[AFR][1000 genomes] |
| rs7572112 | 1.00[AMR][1000 genomes] |
| rs7577815 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv531374 | chr2:55653723-56299784 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | esv2757799 | chr2:56178439-56472394 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
| 3 | esv2759051 | chr2:56178439-56472394 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 34 gene(s) | inside rSNPs | diseases |
| 4 | nsv520175 | chr2:56228351-56331375 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:56222000-56229600 | Weak transcription | Fetal Stomach | stomach |
| 2 | chr2:56228400-56229800 | Enhancers | Fetal Lung | lung |
