Variant report
| Variant | rs12471545 |
|---|---|
| Chromosome Location | chr2:12168075-12168076 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10803742 | 0.84[ASN][1000 genomes] |
| rs10929777 | 0.85[ASN][1000 genomes] |
| rs10929780 | 0.84[ASN][1000 genomes] |
| rs11677651 | 0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11692044 | 0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes] |
| rs12471113 | 0.94[ASN][1000 genomes] |
| rs12618497 | 0.87[AFR][1000 genomes] |
| rs13002221 | 0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1440037 | 0.83[AFR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1808849 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2380410 | 0.84[ASN][1000 genomes] |
| rs4600620 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs4668745 | 0.92[ASN][1000 genomes] |
| rs4669796 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes] |
| rs4669797 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4669798 | 0.84[ASN][1000 genomes] |
| rs7588279 | 0.84[ASN][1000 genomes] |
| rs7588390 | 0.84[ASN][1000 genomes] |
| rs7594009 | 0.94[ASN][1000 genomes] |
| rs7596479 | 0.85[ASN][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 | nsv1003899 | chr2:11789374-12248081 | Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 26 gene(s) | inside rSNPs | diseases |
| 2 | nsv999704 | chr2:12153766-12243960 | Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv1005069 | chr2:12161023-12242734 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv1000696 | chr2:12162843-12241022 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:12167600-12171800 | Weak transcription | K562 | blood |
| 2 | chr2:12167600-12172400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
