Variant report
| Variant | rs61928812 |
|---|---|
| Chromosome Location | chr12:33249992-33249993 |
| 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:
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| 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:16)
| rs_ID | r2[population] |
|---|---|
| rs11052506 | 0.86[ASN][1000 genomes] |
| rs12423297 | 0.86[ASN][1000 genomes] |
| rs12425992 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12427282 | 0.89[ASN][1000 genomes] |
| rs1445313 | 0.86[ASN][1000 genomes] |
| rs17555138 | 0.89[ASN][1000 genomes] |
| rs4931058 | 0.89[ASN][1000 genomes] |
| rs4931687 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs4931700 | 0.86[ASN][1000 genomes] |
| rs55801348 | 0.89[ASN][1000 genomes] |
| rs61927363 | 0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61928811 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61928813 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61928820 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs61928821 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs9989005 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| 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 |
