Variant report
| Variant | rs11746517 |
|---|---|
| Chromosome Location | chr5:79590807-79590808 |
| allele | G/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:20)
| rs_ID | r2[population] |
|---|---|
| rs10037946 | 0.82[ASN][1000 genomes] |
| rs10040517 | 0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs10056450 | 0.81[ASN][1000 genomes] |
| rs10064492 | 0.95[ASN][1000 genomes] |
| rs10474615 | 0.94[ASN][1000 genomes] |
| rs10805932 | 0.80[ASN][1000 genomes] |
| rs10942918 | 0.94[ASN][1000 genomes] |
| rs10942919 | 0.87[ASN][1000 genomes] |
| rs28687412 | 0.80[ASN][1000 genomes] |
| rs35486429 | 0.81[ASN][1000 genomes] |
| rs4703807 | 0.99[ASN][1000 genomes] |
| rs4704655 | 0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs4704656 | 0.81[ASN][1000 genomes] |
| rs55765464 | 0.81[ASN][1000 genomes] |
| rs66984401 | 0.82[ASN][1000 genomes] |
| rs6863166 | 0.99[ASN][1000 genomes] |
| rs6866853 | 0.82[ASN][1000 genomes] |
| rs6880405 | 0.96[ASN][1000 genomes] |
| rs6881727 | 0.80[ASN][1000 genomes] |
| rs7711284 | 0.95[ASN][1000 genomes] |
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 | nsv948807 | chr5:79549207-79805765 | Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 2 | nsv518480 | chr5:79586085-79748382 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11746517 | DP58 | cis | multi-tissue | Pritchard |
| rs11746517 | ARSB | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:79580600-79595400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
