Variant report
| Variant | rs337172 |
|---|---|
| Chromosome Location | chr1:220899025-220899026 |
| 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:21)
| rs_ID | r2[population] |
|---|---|
| rs189231 | 0.81[AFR][1000 genomes];0.99[ASN][1000 genomes] |
| rs234223 | 0.93[ASN][1000 genomes] |
| rs337153 | 0.81[EUR][1000 genomes] |
| rs337154 | 0.81[EUR][1000 genomes] |
| rs337164 | 0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs337169 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs337170 | 0.89[EUR][1000 genomes] |
| rs337173 | 0.89[EUR][1000 genomes] |
| rs337176 | 0.83[EUR][1000 genomes] |
| rs337183 | 0.88[EUR][1000 genomes] |
| rs337184 | 0.88[EUR][1000 genomes] |
| rs337191 | 0.98[ASN][1000 genomes] |
| rs369049 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs381106 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs405196 | 0.81[EUR][1000 genomes] |
| rs426020 | 0.82[EUR][1000 genomes] |
| rs438597 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs442236 | 0.89[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs774132 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs774134 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs774138 | 0.97[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:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs337172 | MOSC2 | Cis_1M | lymphoblastoid | RTeQTL |
| rs337172 | C1orf115 | cis | Nerve Tibial | GTEx |
| rs337172 | C1orf115 | cis | Esophagus Muscularis | GTEx |
| rs337172 | C1orf115 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:220895600-220900800 | Weak transcription | Liver | Liver |
