Variant report
| Variant | rs4415085 |
|---|---|
| Chromosome Location | chr5:44662959-44662960 |
| allele | C/G |
| 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 | chr5:44662835..44664454-chr5:44666112..44668170,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10805685 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs10805686 | 0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs10941677 | 0.97[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs12516900 | 0.94[EUR][1000 genomes] |
| rs12522626 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2013513 | 1.00[CEU][hapmap] |
| rs2218080 | 0.92[CEU][hapmap] |
| rs2218081 | 1.00[CEU][hapmap] |
| rs36068815 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4321755 | 0.94[EUR][1000 genomes] |
| rs4415084 | 0.97[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs4463188 | 0.93[EUR][1000 genomes] |
| rs4479849 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4492118 | 0.94[EUR][1000 genomes] |
| rs4571480 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4571481 | 0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs66996829 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs6890556 | 0.94[EUR][1000 genomes] |
| rs714130 | 1.00[CEU][hapmap] |
| rs7701466 | 0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7720551 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7723539 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7735881 | 0.93[EUR][1000 genomes] |
| rs920329 | 1.00[CEU][hapmap] |
| rs930395 | 0.83[CHB][hapmap] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv830278 | chr5:44540863-44713312 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv537742 | chr5:44620084-44664039 | Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 3 | nsv880457 | chr5:44632008-44800665 | Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4415085 | RP11-53O19.3 | cis | Nerve Tibial | GTEx |
| rs4415085 | LOC647121 | Cis_chr | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:44661000-44665400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr5:44662200-44664400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
