Variant report
| Variant | rs341806 |
|---|---|
| Chromosome Location | chr8:50034028-50034029 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:50023484..50026392-chr8:50032948..50035396,2 | K562 | blood: | |
| 2 | chr8:50031366..50035096-chr8:50036647..50040169,3 | K562 | blood: | |
| 3 | chr8:50032130..50034951-chr8:50036647..50039869,3 | K562 | blood: | |
| 4 | chr8:50023723..50026392-chr8:50033896..50036136,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10435575 | 0.89[EUR][1000 genomes] |
| rs10504073 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs10957363 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs11990854 | 1.00[CEU][hapmap];0.89[EUR][1000 genomes] |
| rs13268440 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs13270448 | 0.86[EUR][1000 genomes] |
| rs1858312 | 0.89[EUR][1000 genomes] |
| rs186891 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1876717 | 0.91[EUR][1000 genomes] |
| rs2137013 | 0.88[CEU][hapmap] |
| rs2385229 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2385230 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs4873093 | 0.88[CEU][hapmap] |
| rs4873094 | 0.88[EUR][1000 genomes] |
| rs4873095 | 0.89[EUR][1000 genomes] |
| rs4873099 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs4873100 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs4873310 | 0.89[EUR][1000 genomes] |
| rs6983929 | 1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs6984804 | 0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7005693 | 1.00[CEU][hapmap];0.89[EUR][1000 genomes] |
| rs7011891 | 1.00[CEU][hapmap];0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1025068 | chr8:49953397-50370208 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv1023325 | chr8:49994793-50050571 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv1793350 | chr8:50013702-50102628 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv1034908 | chr8:50023423-50416049 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv539601 | chr8:50023423-50416049 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs341806 | C8orf22 | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:50034000-50034200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
