Variant report
| Variant | rs10158990 |
|---|---|
| Chromosome Location | chr1:75965414-75965415 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:75964383..75965944-chr1:75967209..75969996,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10874314 | 1.00[CHB][hapmap] |
| rs11163435 | 0.85[JPT][hapmap] |
| rs1249780 | 0.85[JPT][hapmap] |
| rs1249781 | 0.85[JPT][hapmap] |
| rs1249785 | 0.85[JPT][hapmap] |
| rs1249795 | 0.85[JPT][hapmap] |
| rs1249811 | 0.82[JPT][hapmap] |
| rs1249814 | 0.85[JPT][hapmap] |
| rs1249815 | 0.82[JPT][hapmap] |
| rs1249816 | 0.85[JPT][hapmap] |
| rs1249822 | 0.85[JPT][hapmap] |
| rs1249849 | 0.82[JPT][hapmap] |
| rs1249850 | 0.85[JPT][hapmap] |
| rs1614816 | 0.85[JPT][hapmap] |
| rs1739902 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1778456 | 0.85[JPT][hapmap] |
| rs1867352 | 1.00[CHB][hapmap] |
| rs1889037 | 1.00[CHB][hapmap] |
| rs1913124 | 0.85[JPT][hapmap] |
| rs2347218 | 0.82[JPT][hapmap] |
| rs2587031 | 0.82[JPT][hapmap] |
| rs2799050 | 0.82[JPT][hapmap] |
| rs6658825 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs6672579 | 0.85[JPT][hapmap] |
| rs6676591 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs6691590 | 0.85[JPT][hapmap] |
| rs7518629 | 0.81[CEU][hapmap] |
| rs920813 | 1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv519329 | chr1:75830438-76358591 | Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 2 | esv3445096 | chr1:75933216-76126980 | Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10158990 | SLC44A5 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs10158990 | SLC44A5 | cis | Muscle Skeletal | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
