Variant report
| Variant | rs3122647 |
|---|---|
| Chromosome Location | chr8:60050717-60050718 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:13)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:13 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | JUND | chr8:60050142-60050847 | SK-N-SH | brain: | n/a | n/a |
| 2 | TCF12 | chr8:60050171-60050943 | SK-N-SH | brain: | n/a | n/a |
| 3 | EP300 | chr8:60050192-60050914 | SK-N-SH | brain: | n/a | n/a |
| 4 | EP300 | chr8:60050288-60050755 | SK-N-SH_RA | brain: | n/a | n/a |
| 5 | NFIC | chr8:60050181-60050877 | SK-N-SH | brain: | n/a | n/a |
| 6 | TCF12 | chr8:60050136-60050890 | SK-N-SH | brain: | n/a | n/a |
| 7 | NFIC | chr8:60050235-60050729 | SK-N-SH | brain: | n/a | n/a |
| 8 | FOSL2 | chr8:60050211-60050729 | SK-N-SH | brain: | n/a | n/a |
| 9 | GATA3 | chr8:60050254-60050956 | SK-N-SH | brain: | n/a | n/a |
| 10 | PBX3 | chr8:60050317-60050747 | SK-N-SH | brain: | n/a | n/a |
| 11 | PBX3 | chr8:60050251-60050899 | SK-N-SH | brain: | n/a | n/a |
| 12 | GATA3 | chr8:60050085-60050943 | SK-N-SH | brain: | n/a | n/a |
| 13 | JUND | chr8:60050261-60050788 | SK-N-SH | brain: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000206853 | TF binding region |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs3110137 | 0.83[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs3110138 | 0.83[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs3110140 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3110142 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3110145 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3110147 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs3110149 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3110153 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3122648 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3122651 | 0.97[ASN][1000 genomes] |
| rs379771 | 0.97[ASN][1000 genomes] |
| rs392450 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs401139 | 0.97[ASN][1000 genomes] |
| rs407261 | 0.97[ASN][1000 genomes] |
| rs426824 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs449224 | 0.92[ASN][1000 genomes] |
| rs62504556 | 0.85[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv831327 | chr8:60008412-60159152 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:60050200-60050800 | Enhancers | Muscle Satellite Cultured Cells | -- |
