Variant report
| Variant | rs10206188 |
|---|---|
| Chromosome Location | chr2:73550810-73550811 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10165862 | 0.83[ASN][1000 genomes] |
| rs11126395 | 0.88[AFR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11126396 | 0.91[ASN][1000 genomes] |
| rs11898362 | 0.88[AFR][1000 genomes];0.91[ASN][1000 genomes] |
| rs1403412 | 0.86[ASN][1000 genomes] |
| rs1522926 | 0.87[ASN][1000 genomes] |
| rs1851546 | 0.83[ASN][1000 genomes] |
| rs1852644 | 0.86[ASN][1000 genomes] |
| rs2091022 | 0.88[ASN][1000 genomes] |
| rs2901437 | 0.86[ASN][1000 genomes] |
| rs6546824 | 0.83[ASN][1000 genomes] |
| rs6546827 | 0.83[ASN][1000 genomes] |
| rs6706409 | 0.83[ASN][1000 genomes] |
| rs6716776 | 0.82[ASN][1000 genomes] |
| rs6728128 | 0.82[ASN][1000 genomes] |
| rs7560272 | 0.90[ASN][1000 genomes] |
| rs7567017 | 0.82[ASN][1000 genomes] |
| rs7567343 | 0.82[ASN][1000 genomes] |
| rs7573275 | 0.90[ASN][1000 genomes] |
| rs7604588 | 0.83[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1013190 | chr2:73489679-73572643 | Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10206188 | ALMS1 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:73550600-73552600 | Enhancers | Fetal Brain Male | brain |
