Variant report
| Variant | rs1233494 |
|---|---|
| Chromosome Location | chr6:29453219-29453220 |
| allele | A/G |
| 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 | chr6:29434261..29435839-chr6:29452792..29455620,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs1233480 | 0.84[EUR][1000 genomes] |
| rs1233493 | 1.00[EUR][1000 genomes] |
| rs1234844 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2023463 | 1.00[EUR][1000 genomes] |
| rs2143668 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2523431 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2523432 | 0.90[EUR][1000 genomes] |
| rs2523443 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2746149 | 1.00[EUR][1000 genomes] |
| rs2746150 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs3094569 | 0.87[EUR][1000 genomes] |
| rs404240 | 0.89[EUR][1000 genomes] |
| rs408623 | 0.89[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 | esv3424039 | chr6:29439297-29504564 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv883528 | chr6:29447724-29494897 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1233494 | ZFP57 | Cis_1M | lymphoblastoid | RTeQTL |
| rs1233494 | BTN3A2///BTN3A3 | Cis_chr | lymphoblastoid | RTeQTL |
| rs1233494 | BTN3A2 | Cis_chr | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:29452200-29457000 | Weak transcription | Liver | Liver |
