Variant report
| Variant | rs554914 |
|---|---|
| Chromosome Location | chr1:166715650-166715651 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RPL4P2 | TF binding region |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs10737530 | 1.00[CHD][hapmap] |
| rs1561844 | 1.00[CHD][hapmap] |
| rs489144 | 1.00[CHD][hapmap] |
| rs503909 | 1.00[CHD][hapmap] |
| rs511860 | 1.00[CHD][hapmap] |
| rs517224 | 1.00[CHD][hapmap] |
| rs565064 | 1.00[CHD][hapmap] |
| rs565418 | 1.00[CHD][hapmap] |
| rs579671 | 1.00[CHD][hapmap] |
| rs858818 | 0.82[CEU][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 | nsv916491 | chr1:166000783-166948513 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv946485 | chr1:166713395-166717578 | ZNF genes & repeats | TF binding region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs554914 | COTL1 | trans | parietal | SCAN |
| rs554914 | RGS4 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
