Variant report
| Variant | rs34938766 |
|---|---|
| Chromosome Location | chr2:188959666-188959667 |
| 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 | chr2:188959333..188961890-chr2:188963831..188966080,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11674812 | 0.97[ASN][1000 genomes] |
| rs11680607 | 0.97[ASN][1000 genomes] |
| rs11680615 | 0.97[ASN][1000 genomes] |
| rs11685836 | 0.98[ASN][1000 genomes] |
| rs12466815 | 0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs13002178 | 0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs13035162 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1371523 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1371524 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs1439912 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1561569 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1595765 | 0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs7595927 | 0.98[ASN][1000 genomes] |
| rs977699 | 0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv533353 | chr2:188498301-189024655 | Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv875602 | chr2:188923773-189016215 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv875603 | chr2:188923773-189025977 | Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv584044 | chr2:188928433-189016215 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv1002714 | chr2:188934297-189025084 | ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv584045 | chr2:188949715-189003106 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv875604 | chr2:188957640-189043137 | Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:188944600-188988000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 2 | chr2:188955600-188960000 | Weak transcription | Fetal Lung | lung |
