Variant report
| Variant | rs4483433 |
|---|---|
| Chromosome Location | chr1:58134169-58134170 |
| allele | C/T |
| 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 | chr1:58133234..58135282-chr1:58139116..58141569,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs11800684 | 0.85[CHB][hapmap] |
| rs11801131 | 0.85[CHB][hapmap] |
| rs12120378 | 0.85[CHB][hapmap] |
| rs12123728 | 0.85[CHB][hapmap] |
| rs12124076 | 0.84[CHB][hapmap] |
| rs12125360 | 0.85[CHB][hapmap] |
| rs12125452 | 0.84[CHB][hapmap] |
| rs12127845 | 0.84[CHB][hapmap] |
| rs2103142 | 0.83[CHB][hapmap] |
| rs4244010 | 1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap] |
| rs4484949 | 0.85[CHB][hapmap] |
| rs6672391 | 1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6675237 | 0.85[CHB][hapmap] |
| rs7339963 | 0.85[CHB][hapmap] |
| rs7522826 | 0.85[CHB][hapmap] |
| rs7532516 | 0.85[CHB][hapmap] |
| rs7554762 | 0.92[CHB][hapmap] |
| rs7554847 | 0.92[CHB][hapmap] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1015057 | chr1:57976993-58793962 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | nsv530017 | chr1:58002290-58669736 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv871620 | chr1:58127171-58157778 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4483433 | TMEM59 | cis | cerebellum | SCAN |
| rs4483433 | TTC22 | cis | parietal | SCAN |
| rs4483433 | GLIS1 | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
