Variant report
| Variant | rs4590949 |
|---|---|
| Chromosome Location | chr12:104268782-104268783 |
| 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 | chr12:104266210..104269616-chr12:104269671..104272994,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:39)
| rs_ID | r2[population] |
|---|---|
| rs10745982 | 0.88[YRI][hapmap] |
| rs10745983 | 1.00[YRI][hapmap] |
| rs10778293 | 1.00[YRI][hapmap] |
| rs10861128 | 1.00[YRI][hapmap] |
| rs10861129 | 1.00[YRI][hapmap] |
| rs11111811 | 0.82[EUR][1000 genomes] |
| rs11111812 | 1.00[CEU][hapmap];0.82[EUR][1000 genomes] |
| rs11111819 | 0.88[AFR][1000 genomes];0.87[EUR][1000 genomes] |
| rs11111820 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes] |
| rs1165596 | 0.88[YRI][hapmap] |
| rs1165597 | 0.88[YRI][hapmap] |
| rs1165598 | 0.88[YRI][hapmap] |
| rs11830285 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
| rs1185985 | 0.88[YRI][hapmap] |
| rs12228360 | 1.00[CEU][hapmap];0.89[EUR][1000 genomes] |
| rs12312978 | 1.00[YRI][hapmap] |
| rs1595338 | 0.88[YRI][hapmap] |
| rs1595339 | 0.88[YRI][hapmap] |
| rs2196614 | 0.88[YRI][hapmap] |
| rs2248382 | 0.88[YRI][hapmap] |
| rs2374353 | 1.00[YRI][hapmap] |
| rs2576957 | 0.88[YRI][hapmap] |
| rs2576961 | 0.88[YRI][hapmap] |
| rs2576962 | 0.88[YRI][hapmap] |
| rs2576963 | 0.88[YRI][hapmap] |
| rs2576964 | 0.86[YRI][hapmap] |
| rs2576970 | 0.88[YRI][hapmap] |
| rs2583241 | 0.88[YRI][hapmap] |
| rs2583242 | 0.87[YRI][hapmap] |
| rs2583245 | 0.88[YRI][hapmap] |
| rs2583246 | 0.88[YRI][hapmap] |
| rs2583247 | 0.88[YRI][hapmap] |
| rs2583248 | 1.00[YRI][hapmap] |
| rs728165 | 0.88[YRI][hapmap] |
| rs7301247 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7302790 | 0.86[AFR][1000 genomes];0.87[EUR][1000 genomes] |
| rs7315947 | 0.87[YRI][hapmap];0.88[AFR][1000 genomes] |
| rs73175819 | 0.82[EUR][1000 genomes] |
| rs73175822 | 0.86[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 | esv34031 | chr12:104114277-104298546 | Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 2 | nsv560039 | chr12:104177668-104455340 | Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:104254800-104278200 | Weak transcription | Aorta | Aorta |
