Variant report
| Variant | rs9316360 |
|---|---|
| Chromosome Location | chr13:48714264-48714265 |
| allele | A/G |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs12869041 | 0.92[EUR][1000 genomes] |
| rs1327655 | 0.84[AFR][1000 genomes] |
| rs17350996 | 1.00[CEU][hapmap];0.81[EUR][1000 genomes] |
| rs17425881 | 1.00[CEU][hapmap];1.00[GIH][hapmap] |
| rs2025865 | 0.80[AFR][1000 genomes];0.81[EUR][1000 genomes] |
| rs2296573 | 1.00[CEU][hapmap];1.00[GIH][hapmap] |
| rs7322766 | 0.84[AFR][1000 genomes] |
| rs7323969 | 0.82[EUR][1000 genomes] |
| rs7981114 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9285165 | 0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9316346 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[YRI][hapmap];0.80[EUR][1000 genomes] |
| rs9316347 | 0.80[EUR][1000 genomes] |
| rs9316349 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9562800 | 0.80[EUR][1000 genomes] |
| rs9568010 | 0.82[AFR][1000 genomes] |
| rs9568014 | 0.86[YRI][hapmap];0.85[AFR][1000 genomes] |
| rs9568015 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs9591140 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs9595836 | 0.80[EUR][1000 genomes] |
| rs9595843 | 0.82[EUR][1000 genomes] |
| rs9595851 | 0.86[AFR][1000 genomes] |
| rs9595852 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv832601 | chr13:48569952-48735939 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 2 | nsv541766 | chr13:48703229-48857639 | Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv1047140 | chr13:48703732-48765860 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv541767 | chr13:48703732-48765860 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9316360 | MED4 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:48701800-48725800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr13:48714000-48716200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
