Variant report
| Variant | rs1245218 |
|---|---|
| Chromosome Location | chr6:30348042-30348043 |
| 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 | chr6:30312384..30314565-chr6:30347926..30349833,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000241370 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs1150771 | 0.85[EUR][1000 genomes] |
| rs3094055 | 0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs3130378 | 0.91[AMR][1000 genomes] |
| rs3130379 | 0.91[AMR][1000 genomes];0.95[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 | nsv1025667 | chr6:30292845-30638066 | Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 825 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1245218 | ZNF204P | cis | parietal | SCAN |
| rs1245218 | ZNF192 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
