Variant report
Variant | rs73227487 |
---|---|
Chromosome Location | chr5:111462440-111462441 |
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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:111461828..111463789-chr5:111496552..111498764,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000238363 | Chromatin interaction |
ENSG00000224032 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs27982 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2900060 | 0.82[ASN][1000 genomes] |
rs57541807 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs60370278 | 0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6898536 | 0.82[ASN][1000 genomes] |
rs73227490 | 0.82[ASN][1000 genomes] |
rs73227492 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs73227493 | 0.82[ASN][1000 genomes] |
rs73227496 | 0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs73227498 | 0.82[ASN][1000 genomes] |
rs73787775 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs73787782 | 0.80[AMR][1000 genomes] |
rs7730334 | 0.80[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs7731129 | 0.80[AMR][1000 genomes];0.82[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv599367 | chr5:110924280-111602713 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
2 | nsv1015302 | chr5:111339022-111802947 | Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
3 | nsv537861 | chr5:111339022-111802947 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
4 | nsv599368 | chr5:111399885-112032675 | Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
5 | nsv599370 | chr5:111419303-111485372 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:111461800-111464000 | Weak transcription | Fetal Muscle Leg | muscle |