Variant report
| Variant | rs2643932 |
|---|---|
| Chromosome Location | chr12:26064983-26064984 |
| 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 | chr12:26062220..26065200-chr12:26065485..26067609,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10842639 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1167633 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1177523 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1182886 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12297557 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12308555 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1495650 | 0.80[ASN][1000 genomes] |
| rs2643931 | 0.85[AFR][1000 genomes] |
| rs706514 | 0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs706515 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs706517 | 0.93[ASN][1000 genomes] |
| rs706540 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs706541 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7139410 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs829822 | 0.96[EUR][1000 genomes] |
| rs829828 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs829833 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs860490 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs865505 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs995796 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758300 | chr12:25992331-26161116 | Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 2 | esv2759886 | chr12:25992331-26161116 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 3 | nsv1035319 | chr12:26020667-26097148 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers | TF binding regionChromatin interactive regionlncRNAmiRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:26050400-26076800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
