Variant report
Variant | rs12137113 |
---|---|
Chromosome Location | chr1:166600023-166600024 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:166599816..166602307-chr1:166602461..166604942,2 | K562 | blood: | |
2 | chr1:166598296..166600144-chr1:166632730..166634319,2 | K562 | blood: | |
3 | chr1:166598318..166601316-chr1:166603442..166605798,2 | K562 | blood: | |
4 | chr1:166598376..166600400-chr1:166600678..166602405,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs12133879 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12141155 | 0.87[EUR][1000 genomes] |
rs12141514 | 0.85[EUR][1000 genomes] |
rs3856213 | 1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6699341 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs72691693 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs72691941 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs72691944 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs72691946 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs72701323 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7522158 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7532454 | 0.84[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 | nsv916491 | chr1:166000783-166948513 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
2 | esv2757759 | chr1:166491879-166650985 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | esv2758975 | chr1:166491879-166650985 | ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
4 | esv2756869 | chr1:166543542-166601778 | Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
5 | nsv872519 | chr1:166545275-166616786 | Enhancers Flanking Active TSS Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
6 | nsv872518 | chr1:166545275-166623180 | Weak transcription Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | esv34401 | chr1:166546342-166617601 | Enhancers Flanking Active TSS Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | nsv548098 | chr1:166595209-166623180 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:166596000-166601600 | Weak transcription | K562 | blood |