Variant report
| Variant | rs4237858 |
|---|---|
| Chromosome Location | chr12:48884536-48884537 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48875260..48877080-chr12:48883909..48886028,2 | K562 | blood: | |
| 2 | chr12:48880500..48882865-chr12:48883478..48886344,3 | K562 | blood: | |
| 3 | chr12:48882871..48884702-chr12:48885100..48887755,2 | K562 | blood: | |
| 4 | chr12:48880029..48882865-chr12:48884102..48887272,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000177627 | Chromatin interaction |
| ENSG00000240443 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs11168584 | 0.80[AMR][1000 genomes] |
| rs11168601 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11608260 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11612896 | 0.80[AMR][1000 genomes] |
| rs11829869 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11830068 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs11830262 | 0.80[AMR][1000 genomes] |
| rs11832205 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs11832311 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11833650 | 0.80[AMR][1000 genomes] |
| rs11834979 | 0.80[AMR][1000 genomes] |
| rs11836257 | 0.80[AMR][1000 genomes] |
| rs11837374 | 0.80[AMR][1000 genomes] |
| rs12424940 | 0.80[AMR][1000 genomes] |
| rs17123105 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs17123106 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs17123108 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs2068293 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs2731098 | 0.84[EUR][1000 genomes] |
| rs34400124 | 0.80[AMR][1000 genomes] |
| rs4265629 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs4344535 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs4500527 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs4620769 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs56796388 | 0.80[AMR][1000 genomes] |
| rs72644858 | 0.80[AMR][1000 genomes] |
| rs72644859 | 0.80[AMR][1000 genomes] |
| rs72644862 | 0.80[AMR][1000 genomes] |
| rs72644863 | 0.80[AMR][1000 genomes] |
| rs72644864 | 0.80[AMR][1000 genomes] |
| rs72644865 | 0.84[EUR][1000 genomes] |
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 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv975416 | chr12:48882416-48893049 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48883800-48885200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
