Variant report
Variant | rs11983219 |
---|---|
Chromosome Location | chr7:21442234-21442235 |
allele | C/T |
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 | chr7:21442032..21444961-chr7:21451178..21453639,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000229949 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10238023 | 0.86[ASN][1000 genomes] |
rs11763722 | 0.92[ASN][1000 genomes] |
rs12700283 | 0.98[ASN][1000 genomes] |
rs34927723 | 0.84[ASN][1000 genomes] |
rs55892601 | 0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1016705 | chr7:21257416-21450943 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
2 | nsv1027302 | chr7:21391598-21727016 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
3 | nsv538800 | chr7:21391598-21727016 | Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
4 | nsv970800 | chr7:21440556-21446737 | Inactive region | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |