Variant report
| Variant | rs12318357 |
|---|---|
| Chromosome Location | chr12:42095321-42095322 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MTND2P17 | TF binding region |
| MTND1P24 | TF binding region |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs11181110 | 0.94[EUR][1000 genomes] |
| rs11181123 | 0.97[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs11610493 | 0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs182293 | 0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2060756 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2839775 | 0.88[EUR][1000 genomes] |
| rs287005 | 0.89[AFR][1000 genomes];0.93[ASN][1000 genomes] |
| rs287006 | 0.88[AFR][1000 genomes] |
| rs287010 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs287011 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs287012 | 0.85[EUR][1000 genomes] |
| rs287023 | 0.84[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs287024 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs383946 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs395925 | 0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs397496 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs414030 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs438187 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4631944 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7957447 | 0.80[AFR][1000 genomes] |
| rs7971920 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv899040 | chr12:41905897-42181706 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv832386 | chr12:42017259-42189476 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv558701 | chr12:42038171-42105409 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv899043 | chr12:42058138-42313665 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 5 | nsv899044 | chr12:42058138-42321161 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42095200-42095600 | Enhancers | Pancreatic Islets | Pancreatic Islet |
