Variant report
| Variant | rs6990256 |
|---|---|
| Chromosome Location | chr8:86067767-86067768 |
| allele | A/G |
| 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] |
|---|---|
| rs11261468 | 0.86[ASN][1000 genomes] |
| rs2403082 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2403087 | 0.88[ASN][1000 genomes] |
| rs2403088 | 0.89[ASN][1000 genomes] |
| rs2403089 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2896452 | 0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2896453 | 0.84[AMR][1000 genomes] |
| rs4150862 | 0.90[ASN][1000 genomes] |
| rs4740043 | 0.90[ASN][1000 genomes] |
| rs6605609 | 0.94[ASN][1000 genomes] |
| rs6605624 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs6605625 | 0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6986704 | 0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7007304 | 0.81[ASN][1000 genomes] |
| rs72682904 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7814435 | 0.82[ASN][1000 genomes] |
| rs7818090 | 0.88[ASN][1000 genomes] |
| rs7829144 | 0.86[ASN][1000 genomes] |
| rs7838900 | 0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7841142 | 0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3481417 | chr8:85279453-86145229 | Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | esv3481418 | chr8:85279453-86145229 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 3 | esv1799571 | chr8:86064130-86105803 | Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6990256 | C8orf59 | Cis_1M | lymphoblastoid | RTeQTL |
| rs6990256 | LRRCC1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs6990256 | LRRCC1 | cis | Esophagus Mucosa | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:86066600-86067800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
