Variant report
| Variant | rs73104822 |
|---|---|
| Chromosome Location | chr2:231438673-231438674 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | HEY1 | chr2:231438502-231438678 | K562 | blood: | n/a | n/a |
| 2 | POLR2A | chr2:231438484-231438698 | A549 | lung: | n/a | n/a |
| 3 | POLR2A | chr2:231438331-231438844 | GM12878 | blood: | n/a | n/a |
| 4 | POLR2A | chr2:231438345-231438860 | GM12892 | blood: | n/a | n/a |
| 5 | HEY1 | chr2:231438539-231438674 | HepG2 | liver: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| TPM3P8 | TF binding region |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs11891570 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs13405308 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs13405358 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs13418579 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs13421652 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs28823371 | 0.83[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs28887188 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs60947998 | 0.83[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs61174899 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs73102899 | 0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs73104812 | 0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs73104830 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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 | esv18000 | chr2:231072978-231467847 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv875953 | chr2:231415189-231457819 | Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv875954 | chr2:231421531-231441828 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv979181 | chr2:231432587-231439718 | Weak transcription ZNF genes & repeats | TF binding regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | esv11055 | chr2:231437916-231440779 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:231436600-231440000 | Weak transcription | Primary T cells from cord blood | blood |
