Variant report
| Variant | rs546975 |
|---|---|
| Chromosome Location | chr1:91963739-91963740 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | TBP | chr1:91963043-91963876 | HepG2 | liver: | n/a | n/a |
| 2 | MAFK | chr1:91963040-91970259 | HepG2 | liver: | n/a | chr1:91966021-91966035 chr1:91968577-91968588 |
| 3 | RFX5 | chr1:91963555-91963739 | HepG2 | liver: | n/a | n/a |
| 4 | MAZ | chr1:91963069-91963847 | HepG2 | liver: | n/a | n/a |
| 5 | JUND | chr1:91963265-91969107 | HepG2 | liver: | n/a | chr1:91966158-91966170 chr1:91967689-91967697 chr1:91966078-91966087 chr1:91966604-91966613 chr1:91968312-91968321 chr1:91968136-91968145 |
| 6 | FOSL2 | chr1:91962979-91969220 | HepG2 | liver: | n/a | chr1:91966158-91966170 chr1:91967689-91967697 chr1:91966078-91966087 chr1:91966604-91966613 chr1:91968312-91968321 chr1:91968136-91968145 |
| 7 | ARID3A | chr1:91963133-91969929 | HepG2 | liver: | n/a | chr1:91968303-91968319 |
| 8 | RCOR1 | chr1:91963504-91964139 | HepG2 | liver: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CDC7 | TF binding region |
rSNPs within LD-proxies of this variant (count:1)
| rs_ID | r2[population] |
|---|---|
| rs7522550 | 0.84[CHD][hapmap] |
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 | nsv949516 | chr1:91644418-92109261 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv1009560 | chr1:91897078-92270781 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:17)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs546975 | ABI3BP | trans | brain | seeQTL |
| rs546975 | C19orf33 | trans | brain | seeQTL |
| rs546975 | PTGDR | trans | brain | seeQTL |
| rs546975 | PRELP | trans | brain | seeQTL |
| rs546975 | KLF2 | trans | brain | seeQTL |
| rs546975 | SFRP2 | trans | brain | seeQTL |
| rs546975 | UPK1B | trans | brain | seeQTL |
| rs546975 | OLFML2A | trans | brain | seeQTL |
| rs546975 | ID1 | trans | brain | seeQTL |
| rs546975 | OMD | trans | brain | seeQTL |
| rs546975 | TMEM30B | trans | brain | seeQTL |
| rs546975 | ANXA2 | trans | brain | seeQTL |
| rs546975 | GJB2 | trans | brain | seeQTL |
| rs546975 | BMP6 | trans | brain | seeQTL |
| rs546975 | FGL2 | trans | brain | seeQTL |
| rs546975 | FXYD5 | trans | brain | seeQTL |
| rs546975 | TNFRSF11B | trans | brain | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:91956600-91965800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr1:91962000-91965600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
