Variant report
| Variant | rs2035191 |
|---|---|
| Chromosome Location | chr5:74413713-74413714 |
| allele | A/G |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs10058171 | 0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs10440682 | 0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs10942731 | 0.88[ASN][1000 genomes] |
| rs1114161 | 0.84[TSI][hapmap] |
| rs12173218 | 0.88[ASN][1000 genomes] |
| rs1477931 | 0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs17671496 | 0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap] |
| rs17738746 | 0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs3923323 | 0.88[EUR][1000 genomes] |
| rs4632781 | 0.88[EUR][1000 genomes] |
| rs4703645 | 0.86[EUR][1000 genomes] |
| rs4703656 | 0.92[CHD][hapmap];0.81[GIH][hapmap] |
| rs4704193 | 0.89[ASN][1000 genomes] |
| rs4704195 | 0.86[ASN][1000 genomes] |
| rs55810502 | 0.86[EUR][1000 genomes] |
| rs56371963 | 0.85[ASN][1000 genomes] |
| rs59628276 | 0.89[ASN][1000 genomes] |
| rs6870235 | 0.89[ASN][1000 genomes] |
| rs6890143 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes] |
| rs6890320 | 0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes] |
| rs6893216 | 0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs73763033 | 0.89[ASN][1000 genomes] |
| rs7448834 | 0.87[ASN][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 | nsv1018865 | chr5:74246293-74494552 | Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv882189 | chr5:74356857-74478078 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv1016610 | chr5:74403611-74627654 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2035191 | HMGCR | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:74410000-74420400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
