Variant report
Variant | rs2218500 |
---|---|
Chromosome Location | chr1:72954641-72954642 |
allele | A/C |
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 | chr1:72940829..72943302-chr1:72953115..72955886,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs12119736 | 1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs12133881 | 0.98[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs12139940 | 0.95[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs12143162 | 0.92[AMR][1000 genomes] |
rs12404629 | 0.98[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs12404691 | 1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs12408774 | 1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs7524249 | 0.91[AMR][1000 genomes] |
rs7547113 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs812462 | 0.94[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2422432 | chr1:72821856-73148651 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
2 | nsv871873 | chr1:72861847-72975877 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
3 | nsv870463 | chr1:72861847-72995398 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
4 | nsv871758 | chr1:72861847-72995398 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
5 | nsv830215 | chr1:72869049-73029787 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:72952000-72954800 | Weak transcription | Fetal Lung | lung |