Variant report
| Variant | rs1392331 |
|---|---|
| Chromosome Location | chr12:33249832-33249833 |
| 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 | chr12:32907923..32910854-chr12:33249270..33250898,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139131 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10047666 | 1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes] |
| rs10459093 | 0.87[ASN][1000 genomes] |
| rs10506104 | 0.89[EUR][1000 genomes] |
| rs10772037 | 0.87[EUR][1000 genomes] |
| rs10844471 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs10844474 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs10844480 | 0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs10844491 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs11052501 | 0.87[EUR][1000 genomes] |
| rs11052502 | 0.87[EUR][1000 genomes] |
| rs11052503 | 0.81[EUR][1000 genomes] |
| rs11052526 | 0.85[EUR][1000 genomes] |
| rs12297690 | 1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes] |
| rs1445311 | 0.89[EUR][1000 genomes] |
| rs1961179 | 0.87[EUR][1000 genomes] |
| rs1961180 | 0.87[EUR][1000 genomes] |
| rs59547881 | 0.87[EUR][1000 genomes] |
| rs72640193 | 0.87[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530421 | chr12:32825335-33465991 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv832367 | chr12:33063644-33298967 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv1053849 | chr12:33132909-33279169 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1044931 | chr12:33179957-33307362 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
