Variant report
| Variant | rs708897 |
|---|---|
| Chromosome Location | chr12:119994518-119994519 |
| allele | G/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 | chr12:119992598..119995393-chr12:120116736..120118887,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111725 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs1716437 | 0.97[ASN][1000 genomes] |
| rs1727420 | 0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs708894 | 0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs708896 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs804449 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs804450 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs809227 | 0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv916688 | chr12:119801814-120044407 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv832529 | chr12:119863378-120071646 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv437156 | chr12:119988011-119995001 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv2760699 | chr12:119988887-119994518 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1053893 | chr12:119990045-120001334 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv1040654 | chr12:119990608-120001334 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv1052595 | chr12:119992580-120132038 | Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 8 | nsv541616 | chr12:119992580-120132038 | Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
