Variant report
| Variant | rs12131638 |
|---|---|
| Chromosome Location | chr1:170083991-170083992 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:20)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:20 , 50 per page) page:
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| Variant related genes | Relation type |
|---|---|
| SIGLEC30P | TF binding region |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12117652 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
| rs12117699 | 1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs12117892 | 0.80[CEU][hapmap] |
| rs12120025 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs12121055 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs12122794 | 0.95[EUR][1000 genomes] |
| rs12126443 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
| rs12128116 | 0.95[EUR][1000 genomes] |
| rs12129144 | 0.95[EUR][1000 genomes] |
| rs12130724 | 0.88[EUR][1000 genomes] |
| rs12131740 | 0.80[CEU][hapmap] |
| rs12132575 | 0.81[AMR][1000 genomes] |
| rs12133411 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs12135070 | 0.80[CEU][hapmap] |
| rs12140845 | 0.88[CEU][hapmap];0.81[AMR][1000 genomes] |
| rs12141501 | 1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs12141522 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs12142155 | 0.95[EUR][1000 genomes] |
| rs12144057 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
| rs12144085 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
| rs12145948 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
| rs1411465 | 0.95[EUR][1000 genomes] |
| rs488488 | 0.87[CEU][hapmap];0.81[AMR][1000 genomes] |
| rs56147946 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs688565 | 0.81[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1014033 | chr1:169968488-170453021 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription 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 | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv535200 | chr1:169968488-170453021 | Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv999310 | chr1:170065943-170223350 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12131638 | METTL18 | cis | Artery Aorta | GTEx |
| rs12131638 | METTL18 | cis | Esophagus Muscularis | GTEx |
| rs12131638 | C1orf156 | Cis_1M | lymphoblastoid | RTeQTL |
| rs12131638 | METTL18 | cis | Muscle Skeletal | GTEx |
| rs12131638 | METTL18 | cis | Adipose Subcutaneous | GTEx |
| rs12131638 | MGC9084 | cis | multi-tissue | Pritchard |
| rs12131638 | METTL18 | cis | Thyroid | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
