Variant report
| Variant | rs67549397 |
|---|---|
| Chromosome Location | chr11:93652213-93652214 |
| allele | A/C |
| 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:20)
| rs_ID | r2[population] |
|---|---|
| rs1573567 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16919533 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57856352 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs60336058 | 0.82[ASN][1000 genomes] |
| rs60351354 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60546087 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60550219 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs67167563 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs67232024 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs67812366 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7105405 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7109132 | 0.84[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7109819 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7927828 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7932290 | 0.88[EUR][1000 genomes] |
| rs7934467 | 0.89[EUR][1000 genomes] |
| rs950878 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs9888143 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9888156 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9888266 | 0.86[AMR][1000 genomes];0.99[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 | nsv898181 | chr11:93072843-93662459 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 119 gene(s) | inside rSNPs | diseases |
| 2 | nsv508650 | chr11:93609010-93713576 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 3 | esv1796911 | chr11:93642877-93688134 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1049467 | chr11:93651025-93778717 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs67549397 | HEPHL1 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:93641600-93652800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr11:93642000-93655200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
