Variant report
Variant | rs548745 |
---|---|
Chromosome Location | chr1:58650298-58650299 |
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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:58649644..58651898-chr1:58682331..58684466,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10889085 | 0.85[EUR][1000 genomes] |
rs10889086 | 0.94[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs1776183 | 0.96[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs1981196 | 0.95[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs2806399 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs3850537 | 0.93[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs471080 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs488944 | 0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs501582 | 0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs502534 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs507981 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs538348 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs544369 | 0.95[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs593257 | 0.94[AMR][1000 genomes];0.99[ASN][1000 genomes] |
rs60404864 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs625994 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs677451 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7524008 | 0.94[AMR][1000 genomes];0.92[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1015057 | chr1:57976993-58793962 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
2 | nsv530017 | chr1:58002290-58669736 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
3 | nsv431379 | chr1:58224212-58802608 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv1008968 | chr1:58582159-58982440 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
5 | nsv534974 | chr1:58582159-58982440 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:58649000-58650400 | Enhancers | Liver | Liver |
2 | chr1:58649200-58650400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |