Variant report
| Variant | rs2104373 |
|---|---|
| Chromosome Location | chr13:48452461-48452462 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs10870820 | 0.86[AFR][1000 genomes] |
| rs12869557 | 0.91[ASN][1000 genomes] |
| rs12873785 | 0.96[ASN][1000 genomes] |
| rs1555722 | 0.94[ASN][1000 genomes] |
| rs17425881 | 0.89[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap] |
| rs1974039 | 0.96[ASN][1000 genomes] |
| rs2104374 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2296573 | 1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap] |
| rs4553498 | 0.99[ASN][1000 genomes] |
| rs4942710 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6561411 | 0.92[ASN][1000 genomes] |
| rs7317860 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs7323277 | 0.94[ASN][1000 genomes] |
| rs7334095 | 0.91[ASN][1000 genomes] |
| rs7334463 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs7336952 | 0.93[ASN][1000 genomes] |
| rs7337766 | 0.82[CHB][hapmap];0.93[ASN][1000 genomes] |
| rs7981260 | 0.91[ASN][1000 genomes] |
| rs7986369 | 0.97[ASN][1000 genomes] |
| rs7993360 | 0.91[ASN][1000 genomes] |
| rs7993810 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7994427 | 0.94[ASN][1000 genomes] |
| rs7998886 | 0.96[ASN][1000 genomes] |
| rs9316346 | 0.84[JPT][hapmap] |
| rs9562779 | 0.94[ASN][1000 genomes] |
| rs9567940 | 0.99[ASN][1000 genomes] |
| rs9567942 | 0.87[AFR][1000 genomes] |
| rs9567943 | 0.96[ASN][1000 genomes] |
| rs9567948 | 0.88[ASN][1000 genomes] |
| rs9595813 | 0.93[ASN][1000 genomes] |
| rs970650 | 0.87[AFR][1000 genomes] |
| rs970651 | 0.87[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3510679 | chr13:48236624-48498185 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | esv3510680 | chr13:48236624-48498185 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv933980 | chr13:48431000-48557419 | Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2104373 | MED4 | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:48449000-48464200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr13:48451000-48480200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
