Variant report
Variant | rs2838609 |
---|---|
Chromosome Location | chr21:46064294-46064295 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr21:46063133..46064970-chr21:46067170..46069739,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KRTAP10-11 | TF binding region |
rs_ID | r2[population] |
---|---|
rs12165290 | 0.93[CEU][hapmap];1.00[CHB][hapmap] |
rs12481887 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12482310 | 0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1827518 | 0.93[CEU][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2838596 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2838606 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2838607 | 0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs2838608 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28444901 | 0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7275571 | 0.93[CEU][hapmap];1.00[JPT][hapmap] |
rs7281656 | 0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs9976987 | 0.87[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs9977319 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs9978510 | 0.82[EUR][1000 genomes] |
rs9978560 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs9980554 | 0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs9981621 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs9982245 | 0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs9982268 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1065798 | chr21:45941000-46097463 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
2 | nsv869108 | chr21:45941000-46097463 | Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
3 | nsv544476 | chr21:45941000-46097463 | Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
4 | nsv913950 | chr21:45985068-46097463 | Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
5 | nsv916258 | chr21:45995986-46624705 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 102 gene(s) | inside rSNPs | diseases |
No data |