Variant report
| Variant | rs7640221 |
|---|---|
| Chromosome Location | chr3:48385718-48385719 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs11130166 | 0.80[EUR][1000 genomes] |
| rs12486935 | 0.80[EUR][1000 genomes] |
| rs12486944 | 0.81[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs13082269 | 0.80[EUR][1000 genomes] |
| rs13087050 | 0.80[EUR][1000 genomes] |
| rs13094496 | 0.80[EUR][1000 genomes] |
| rs17593974 | 0.80[EUR][1000 genomes] |
| rs62263035 | 0.80[EUR][1000 genomes] |
| rs6804828 | 0.80[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv834683 | chr3:48301504-48493261 | Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 73 gene(s) | inside rSNPs | diseases |
| 2 | nsv834684 | chr3:48385699-48589323 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 66 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:23)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7640221 | ZNF589 | cis | Adipose Subcutaneous | GTEx |
| rs7640221 | MRPS18AP1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs7640221 | ZNF589 | cis | Artery Tibial | GTEx |
| rs7640221 | MRPS18AP1 | cis | Esophagus Muscularis | GTEx |
| rs7640221 | ZNF589 | cis | Nerve Tibial | GTEx |
| rs7640221 | MRPS18AP1 | cis | Nerve Tibial | GTEx |
| rs7640221 | CDC25A | cis | Adipose Subcutaneous | GTEx |
| rs7640221 | ZNF589 | cis | Thyroid | GTEx |
| rs7640221 | MRPS18AP1 | cis | Whole Blood | GTEx |
| rs7640221 | MRPS18AP1 | cis | Thyroid | GTEx |
| rs7640221 | MRPS18AP1 | cis | Artery Tibial | GTEx |
| rs7640221 | MRPS18AP1 | cis | Adipose Subcutaneous | GTEx |
| rs7640221 | MRPS18AP1 | cis | Artery Aorta | GTEx |
| rs7640221 | MRPS18AP1 | cis | lung | GTEx |
| rs7640221 | NME6 | cis | Esophagus Muscularis | GTEx |
| rs7640221 | MRPS18AP1 | cis | Esophagus Mucosa | GTEx |
| rs7640221 | ZNF589 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs7640221 | NME6 | Cis_1M | lymphoblastoid | RTeQTL |
| rs7640221 | CDC25A | cis | Muscle Skeletal | GTEx |
| rs7640221 | ZNF589 | cis | Whole Blood | GTEx |
| rs7640221 | ZNF589 | cis | Esophagus Mucosa | GTEx |
| rs7640221 | MRPS18AP1 | cis | Muscle Skeletal | GTEx |
| rs7640221 | CDC25A | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:48377600-48387800 | Weak transcription | Placenta | Placenta |
| 2 | chr3:48381000-48386200 | Weak transcription | HSMM | muscle |
| 3 | chr3:48381200-48386000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
