Variant report
| Variant | rs17008339 |
|---|---|
| Chromosome Location | chr1:220886350-220886351 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs11553965 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs11553966 | 1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs17007981 | 0.82[JPT][hapmap] |
| rs17008285 | 1.00[JPT][hapmap] |
| rs17008287 | 1.00[JPT][hapmap] |
| rs17008290 | 1.00[JPT][hapmap] |
| rs17008302 | 1.00[JPT][hapmap] |
| rs17008319 | 0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs1874119 | 1.00[JPT][hapmap] |
| rs1874120 | 1.00[JPT][hapmap] |
| rs2088044 | 1.00[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2101771 | 1.00[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2172704 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs3737297 | 0.85[JPT][hapmap] |
| rs3738175 | 1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs58055537 | 0.94[EUR][1000 genomes] |
| rs6663028 | 1.00[JPT][hapmap] |
| rs6673650 | 0.94[EUR][1000 genomes] |
| rs6675112 | 1.00[JPT][hapmap] |
| rs6675203 | 1.00[JPT][hapmap] |
| rs6678186 | 1.00[JPT][hapmap] |
| rs72472365 | 1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs73107682 | 0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7533858 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2754270 | chr1:220850116-220929155 | Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17008339 | C1orf115 | Cis_1M | lymphoblastoid | RTeQTL |
| rs17008339 | MOSC2 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:220883800-220886800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
