Variant report
| Variant | rs2144318 |
|---|---|
| Chromosome Location | chr14:37564184-37564185 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000129514 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs1012198 | 0.83[EUR][1000 genomes] |
| rs10134406 | 0.83[EUR][1000 genomes] |
| rs1057564 | 0.83[EUR][1000 genomes] |
| rs1404 | 0.83[EUR][1000 genomes] |
| rs17178484 | 0.83[EUR][1000 genomes] |
| rs17178639 | 0.87[EUR][1000 genomes] |
| rs17178764 | 0.87[EUR][1000 genomes] |
| rs17767929 | 0.87[EUR][1000 genomes] |
| rs1950372 | 0.87[EUR][1000 genomes] |
| rs1955758 | 0.87[EUR][1000 genomes] |
| rs2038309 | 0.83[EUR][1000 genomes] |
| rs2415386 | 0.87[EUR][1000 genomes] |
| rs57235322 | 0.83[EUR][1000 genomes] |
| rs6571781 | 1.00[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs6571783 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs6571785 | 0.83[EUR][1000 genomes] |
| rs6571786 | 0.83[EUR][1000 genomes] |
| rs6571787 | 0.83[EUR][1000 genomes] |
| rs6571788 | 0.83[EUR][1000 genomes] |
| rs7142723 | 0.87[EUR][1000 genomes] |
| rs7159967 | 0.87[EUR][1000 genomes] |
| rs725243 | 0.87[EUR][1000 genomes] |
| rs8009630 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs8012664 | 0.83[EUR][1000 genomes] |
| rs8014610 | 0.87[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv534288 | chr14:37254539-37697745 | Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv1050174 | chr14:37556357-37664143 | Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv1043410 | chr14:37556357-37671059 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 4 | nsv564347 | chr14:37558794-37590164 | Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:37561400-37568000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr14:37562800-37564800 | Enhancers | K562 | blood |
