Variant report
| Variant | rs59360790 |
|---|---|
| Chromosome Location | chr11:47669175-47669176 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:47669163..47671656-chr11:47673421..47675841,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:35)
| rs_ID | r2[population] |
|---|---|
| rs1064608 | 0.95[ASN][1000 genomes] |
| rs10838738 | 0.95[ASN][1000 genomes] |
| rs10838747 | 0.89[ASN][1000 genomes] |
| rs10838748 | 0.89[ASN][1000 genomes] |
| rs10838757 | 0.85[ASN][1000 genomes] |
| rs11039307 | 0.81[EUR][1000 genomes] |
| rs11039308 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11039324 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11039342 | 0.89[ASN][1000 genomes] |
| rs11039348 | 0.86[ASN][1000 genomes] |
| rs11039355 | 0.83[ASN][1000 genomes] |
| rs11602339 | 0.82[ASN][1000 genomes] |
| rs11602395 | 0.88[ASN][1000 genomes] |
| rs11604825 | 0.85[ASN][1000 genomes] |
| rs12361031 | 0.82[ASN][1000 genomes] |
| rs12363232 | 0.90[ASN][1000 genomes] |
| rs12419507 | 0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12419692 | 0.92[ASN][1000 genomes] |
| rs12421210 | 0.83[ASN][1000 genomes] |
| rs12787112 | 0.91[ASN][1000 genomes] |
| rs12787646 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12794570 | 0.95[ASN][1000 genomes] |
| rs12798028 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs12799623 | 0.88[ASN][1000 genomes] |
| rs12803191 | 0.83[ASN][1000 genomes] |
| rs17788930 | 0.83[ASN][1000 genomes] |
| rs34910028 | 0.85[ASN][1000 genomes] |
| rs34923397 | 0.83[ASN][1000 genomes] |
| rs3817334 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs3817335 | 0.95[ASN][1000 genomes] |
| rs4752856 | 0.95[ASN][1000 genomes] |
| rs4752857 | 0.95[ASN][1000 genomes] |
| rs66749409 | 0.80[ASN][1000 genomes] |
| rs7927771 | 0.82[ASN][1000 genomes] |
| rs7947730 | 0.82[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 | nsv832142 | chr11:47517955-47681310 | Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| 2 | nsv469858 | chr11:47647515-47837172 | Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 70 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs59360790 | C1QTNF4 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs59360790 | FNBP4 | Cis_1M | lymphoblastoid | RTeQTL |
| rs59360790 | C1QTNF4 | cis | Muscle Skeletal | GTEx |
| rs59360790 | C1QTNF4 | cis | Adipose Subcutaneous | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:47665000-47670000 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr11:47665000-47672400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr11:47665200-47672600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
