Variant report
| Variant | rs12580814 |
|---|---|
| Chromosome Location | chr12:48956032-48956033 |
| 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 | chr12:48950749..48953100-chr12:48955040..48956602,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs11168613 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11834413 | 1.00[CHB][hapmap] |
| rs12579133 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12579547 | 1.00[CHB][hapmap] |
| rs12580859 | 0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs12581223 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs12582811 | 1.00[CHB][hapmap];0.83[ASN][1000 genomes] |
| rs17234937 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2705127 | 1.00[JPT][hapmap] |
| rs4397895 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs4426170 | 0.82[CEU][hapmap];1.00[JPT][hapmap] |
| rs4547144 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs55685217 | 0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56034252 | 0.80[ASN][1000 genomes] |
| rs61940763 | 0.80[ASN][1000 genomes] |
| rs61940766 | 0.80[ASN][1000 genomes] |
| rs61940767 | 0.80[ASN][1000 genomes] |
| rs61940768 | 0.80[ASN][1000 genomes] |
| rs61940777 | 0.90[ASN][1000 genomes] |
| rs61940779 | 0.90[ASN][1000 genomes] |
| rs61940822 | 0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
| rs61941972 | 0.95[AMR][1000 genomes];0.93[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 | nsv1048307 | chr12:48927514-48958949 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
