Variant report
Variant | rs12145289 |
---|---|
Chromosome Location | chr1:103670122-103670123 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No data |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10493993 | 0.80[AFR][1000 genomes] |
rs10493996 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs10493997 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs10493998 | 0.85[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12073917 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs12123238 | 0.80[AFR][1000 genomes];0.80[AMR][1000 genomes] |
rs12125356 | 0.82[AFR][1000 genomes] |
rs12135621 | 0.83[AMR][1000 genomes] |
rs12135999 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs12140428 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs17127670 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs17464442 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs61815054 | 0.82[AFR][1000 genomes] |
rs61815060 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs61815063 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs6696490 | 0.82[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv522922 | chr1:103305021-103764640 | Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv931600 | chr1:103548397-104161031 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
3 | nsv498007 | chr1:103573857-104107589 | Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
4 | esv2830089 | chr1:103615938-103670474 | Enhancers Weak transcription Active TSS | n/a | n/a | inside rSNPs | diseases |
5 | nsv526337 | chr1:103636607-103704266 | Enhancers Weak transcription Active TSS Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:103660800-103672600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |