Variant report
| Variant | rs1457671 |
|---|---|
| Chromosome Location | chr12:33403345-33403346 |
| allele | C/G |
| 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 | chr12:33388213..33390806-chr12:33400854..33403757,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10844528 | 0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11052527 | 0.83[AMR][1000 genomes] |
| rs11052531 | 0.88[AMR][1000 genomes] |
| rs11052539 | 0.83[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11052542 | 0.86[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11052553 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11052554 | 0.95[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11052556 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11052578 | 0.87[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11052588 | 0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11052704 | 0.84[MEX][hapmap] |
| rs11615155 | 0.98[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12228065 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12299895 | 0.90[MEX][hapmap] |
| rs3911503 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4931699 | 1.00[CHB][hapmap] |
| rs4931714 | 0.93[ASN][1000 genomes] |
| rs55841103 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs68189829 | 0.87[AMR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | nsv530421 | chr12:32825335-33465991 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv1037459 | chr12:33310703-33905662 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 3 | nsv541459 | chr12:33310703-33905662 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 4 | nsv669 | chr12:33362795-33418800 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv832368 | chr12:33368962-33588498 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv1048521 | chr12:33373737-33430095 | ZNF genes & repeats Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | nsv508669 | chr12:33378867-33403526 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv826317 | chr12:33380271-33446428 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 9 | nsv558238 | chr12:33387308-33404713 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 10 | nsv1035988 | chr12:33399053-33699363 | Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33403000-33413200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
