Variant report
| Variant | rs74141504 |
|---|---|
| Chromosome Location | chr1:216311704-216311705 |
| 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 | chr1:216308823..216311948-chr1:216312152..216315770,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs12084498 | 1.00[AMR][1000 genomes] |
| rs12085544 | 1.00[AMR][1000 genomes] |
| rs12089549 | 1.00[AMR][1000 genomes] |
| rs55860667 | 1.00[AMR][1000 genomes] |
| rs57347173 | 1.00[AMR][1000 genomes] |
| rs61107444 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74141523 | 1.00[AMR][1000 genomes] |
| rs74141528 | 1.00[AMR][1000 genomes] |
| rs74141553 | 1.00[AMR][1000 genomes] |
| rs74143933 | 1.00[AMR][1000 genomes] |
| rs74143934 | 1.00[AMR][1000 genomes] |
| rs74143935 | 1.00[AMR][1000 genomes] |
| rs74143936 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1006504 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv535288 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv873176 | chr1:216249570-216363137 | Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv999211 | chr1:216268796-216329336 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1006028 | chr1:216268796-216432545 | Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:216302800-216312600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
