Variant report
| Variant | rs2194516 |
|---|---|
| Chromosome Location | chr12:29550486-29550487 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:29541062..29545013-chr12:29549757..29553223,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257599 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10843407 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs1436322 | 0.84[EUR][1000 genomes] |
| rs1436323 | 0.84[EUR][1000 genomes] |
| rs1813641 | 0.90[ASN][1000 genomes] |
| rs2194515 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs3847678 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs6487818 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes] |
| rs6487823 | 0.91[ASN][1000 genomes] |
| rs7132568 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7133022 | 0.81[AMR][1000 genomes] |
| rs7295224 | 0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | nsv995123 | chr12:29095272-29571558 | Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv1053641 | chr12:29268813-29854413 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2194516 | RP11-996F15.2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs2194516 | RP11-996F15.2 | cis | Artery Tibial | GTEx |
| rs2194516 | RP11-996F15.2 | cis | Adipose Subcutaneous | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29550200-29551600 | Weak transcription | HMEC | breast |
