Variant report
| Variant | rs1512238 |
|---|---|
| Chromosome Location | chr18:44748467-44748468 |
| 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 | chr18:44748229..44751768-chr18:44757535..44761625,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000201825 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs11082567 | 0.81[EUR][1000 genomes] |
| rs12968552 | 0.91[ASN][1000 genomes] |
| rs1434529 | 0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1512236 | 0.81[EUR][1000 genomes] |
| rs1836259 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2571004 | 0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2571006 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2571017 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2635056 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2668758 | 0.81[AMR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2668759 | 0.80[AMR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2668772 | 0.81[EUR][1000 genomes] |
| rs2668777 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs2668784 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2684819 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs8091902 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs938134 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs9953157 | 0.80[AMR][1000 genomes];0.87[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 | nsv9629 | chr18:44264693-44757511 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
