Variant report
| Variant | rs1985044 |
|---|---|
| Chromosome Location | chr12:41237995-41237996 |
| allele | C/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:26)
| rs_ID | r2[population] |
|---|---|
| rs10431586 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs10735960 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs10735961 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs10879308 | 0.80[ASN][1000 genomes] |
| rs10879309 | 0.80[ASN][1000 genomes] |
| rs11178843 | 0.87[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs11178891 | 0.80[ASN][1000 genomes] |
| rs12296447 | 0.80[ASN][1000 genomes] |
| rs12301919 | 0.87[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs2034159 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2225314 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2772459 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2772460 | 0.81[EUR][1000 genomes] |
| rs7134512 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7136705 | 0.80[ASN][1000 genomes] |
| rs7300865 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7305488 | 0.80[ASN][1000 genomes] |
| rs7309734 | 0.80[ASN][1000 genomes] |
| rs7488448 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7488883 | 0.84[AFR][1000 genomes] |
| rs7958928 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7961659 | 0.83[EUR][1000 genomes] |
| rs7975149 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs7980104 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7980964 | 0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9325193 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][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 | nsv427909 | chr12:41054306-41322257 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv832380 | chr12:41132306-41323961 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41226800-41266400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:41232000-41248000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
