Variant report
| Variant | rs10843531 |
|---|---|
| Chromosome Location | chr12:30030407-30030408 |
| 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 | chr12:30029795..30032959-chr12:30033915..30036859,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10771591 | 0.91[ASN][1000 genomes] |
| rs10843528 | 0.95[ASN][1000 genomes] |
| rs10843539 | 0.94[ASN][1000 genomes] |
| rs11050511 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11050521 | 0.91[ASN][1000 genomes] |
| rs12226994 | 0.98[ASN][1000 genomes] |
| rs12227581 | 0.94[ASN][1000 genomes] |
| rs12227846 | 0.94[ASN][1000 genomes] |
| rs12227886 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2129137 | 0.97[ASN][1000 genomes] |
| rs2129140 | 0.95[CHB][hapmap] |
| rs2351015 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes] |
| rs4622345 | 0.83[ASN][1000 genomes] |
| rs57237787 | 0.92[ASN][1000 genomes] |
| rs58304678 | 0.92[ASN][1000 genomes] |
| rs59181833 | 0.92[ASN][1000 genomes] |
| rs7133046 | 0.97[ASN][1000 genomes] |
| rs7135043 | 0.95[CHB][hapmap] |
| rs7973763 | 0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529328 | chr12:29692414-30246209 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv469191 | chr12:29939628-30098770 | Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv557958 | chr12:29939628-30098770 | ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv526146 | chr12:29989292-30112823 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | esv2758302 | chr12:30023167-30175232 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv2759889 | chr12:30023167-30175232 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30023000-30032400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr12:30024200-30032400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
