Variant report
| Variant | rs11127746 |
|---|---|
| Chromosome Location | chr3:81974175-81974176 |
| 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 | chr3:81968116..81969902-chr3:81973558..81976369,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10779986 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10779987 | 0.86[EUR][1000 genomes] |
| rs11705789 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs13068700 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1851918 | 0.86[EUR][1000 genomes] |
| rs1851926 | 0.88[EUR][1000 genomes] |
| rs1851928 | 0.88[EUR][1000 genomes] |
| rs1969433 | 0.86[EUR][1000 genomes] |
| rs35779564 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs4481177 | 0.84[ASN][1000 genomes] |
| rs4622918 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6766011 | 0.86[EUR][1000 genomes] |
| rs6778265 | 0.86[EUR][1000 genomes] |
| rs6797240 | 0.86[EUR][1000 genomes] |
| rs9817070 | 0.85[EUR][1000 genomes] |
| rs9820349 | 0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs9854004 | 0.82[ASN][1000 genomes] |
| rs9870954 | 0.88[EUR][1000 genomes] |
| rs9877408 | 0.88[EUR][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 | nsv999992 | chr3:81693662-82015969 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 2 | nsv536605 | chr3:81693662-82015969 | Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11127746 | GBE1 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:81971000-81977600 | Weak transcription | Fetal Heart | heart |
