Variant report
| Variant | rs249714 |
|---|---|
| Chromosome Location | chr5:115031165-115031166 |
| allele | A/C |
| 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 | MAFK | chr5:115031015-115031344 | HepG2 | liver: | n/a | chr5:115031154-115031169 |
| 2 | MAFK | chr5:115031053-115031232 | IMR90 | lung: | n/a | chr5:115031154-115031169 |
| 3 | MAFF | chr5:115031035-115031344 | HepG2 | liver: | n/a | chr5:115031152-115031170 |
| 4 | MAFK | chr5:115031035-115031296 | HepG2 | liver: | n/a | chr5:115031154-115031169 |
| 5 | MAFF | chr5:115031081-115031261 | K562 | blood: | n/a | chr5:115031152-115031170 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000249021 | TF binding region |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs142016 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2431440 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2431442 | 0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2434729 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2455449 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2455452 | 0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2545845 | 0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2652664 | 0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs458555 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs460968 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs461393 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs465437 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs466506 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv916273 | chr5:114656592-115089901 | Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv868915 | chr5:114723371-115252527 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| 3 | nsv1024641 | chr5:115030110-115123474 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:115030200-115033800 | Enhancers | Fetal Lung | lung |
