Variant report
Variant | rs12145591 |
---|---|
Chromosome Location | chr1:171436152-171436153 |
allele | C/T |
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 | chr1:171433165..171434735-chr1:171436110..171438590,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10913129 | 0.88[AMR][1000 genomes] |
rs12124034 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes] |
rs12126599 | 1.00[AFR][1000 genomes];0.88[AMR][1000 genomes] |
rs12128241 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs12134052 | 1.00[AFR][1000 genomes];0.81[AMR][1000 genomes] |
rs12136219 | 1.00[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs12145006 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs12146098 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs12403390 | 1.00[AFR][1000 genomes];0.88[AMR][1000 genomes] |
rs17646340 | 0.83[AMR][1000 genomes] |
rs6425276 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1001228 | chr1:170885787-171452579 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 23 gene(s) | inside rSNPs | diseases |
2 | esv14617 | chr1:171016086-171726961 | Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 52 gene(s) | inside rSNPs | diseases |
3 | esv3512995 | chr1:171329123-171994470 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
4 | esv3512997 | chr1:171329123-171994470 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:171435000-171439000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |