Variant report
| Variant | rs73048581 |
|---|---|
| Chromosome Location | chr2:180708197-180708198 |
| 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 | chr2:180706168..180708341-chr2:180711093..180713264,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs11892944 | 1.00[EUR][1000 genomes] |
| rs11892974 | 1.00[EUR][1000 genomes] |
| rs11900349 | 1.00[EUR][1000 genomes] |
| rs16867000 | 1.00[EUR][1000 genomes] |
| rs16867017 | 0.94[EUR][1000 genomes] |
| rs16867020 | 1.00[EUR][1000 genomes] |
| rs57883199 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59089951 | 1.00[EUR][1000 genomes] |
| rs6708281 | 0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6730668 | 0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73048570 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73048573 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7573549 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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 | nsv1002305 | chr2:180568558-180812846 | Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv428731 | chr2:180629389-180805171 | Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv875472 | chr2:180696414-181024926 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv875473 | chr2:180696414-181055597 | Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:180706800-180724800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
