Variant report
| Variant | rs7301724 |
|---|---|
| Chromosome Location | chr12:58389983-58389984 |
| allele | G/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:38)
| rs_ID | r2[population] |
|---|---|
| rs10506393 | 0.84[EUR][1000 genomes] |
| rs10783862 | 0.82[AMR][1000 genomes] |
| rs10783865 | 0.83[EUR][1000 genomes] |
| rs10877052 | 0.83[EUR][1000 genomes] |
| rs11172418 | 0.84[EUR][1000 genomes] |
| rs11172420 | 0.84[EUR][1000 genomes] |
| rs11172421 | 0.83[EUR][1000 genomes] |
| rs11172422 | 0.83[EUR][1000 genomes] |
| rs11172457 | 0.86[EUR][1000 genomes] |
| rs12368024 | 0.84[EUR][1000 genomes] |
| rs12422985 | 0.83[EUR][1000 genomes] |
| rs12828647 | 0.81[EUR][1000 genomes] |
| rs1466973 | 0.84[EUR][1000 genomes] |
| rs1506884 | 0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1605333 | 0.84[EUR][1000 genomes] |
| rs2221541 | 0.83[EUR][1000 genomes] |
| rs4495927 | 0.84[EUR][1000 genomes] |
| rs4565944 | 0.82[EUR][1000 genomes] |
| rs4760181 | 0.83[EUR][1000 genomes] |
| rs4760182 | 0.83[EUR][1000 genomes] |
| rs6581170 | 0.82[EUR][1000 genomes] |
| rs6581173 | 0.83[EUR][1000 genomes] |
| rs6581177 | 0.82[EUR][1000 genomes] |
| rs66832796 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs7132168 | 0.82[EUR][1000 genomes] |
| rs7135063 | 0.84[EUR][1000 genomes] |
| rs7304458 | 0.83[EUR][1000 genomes] |
| rs7314066 | 0.82[EUR][1000 genomes] |
| rs7484670 | 0.84[EUR][1000 genomes] |
| rs7959475 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs7960690 | 0.81[EUR][1000 genomes] |
| rs7960942 | 0.81[EUR][1000 genomes] |
| rs7963367 | 0.83[EUR][1000 genomes] |
| rs7974754 | 0.84[EUR][1000 genomes] |
| rs7975805 | 0.84[EUR][1000 genomes] |
| rs871908 | 0.83[EUR][1000 genomes] |
| rs951901 | 0.83[EUR][1000 genomes] |
| rs970249 | 0.83[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 | nsv559046 | chr12:58162085-58478598 | Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 261 gene(s) | inside rSNPs | diseases |
| 2 | nsv1051716 | chr12:58374313-58410810 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:12)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7301724 | XRCC6BP1 | cis | lung | GTEx |
| rs7301724 | XRCC6BP1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs7301724 | XRCC6BP1 | cis | Nerve Tibial | GTEx |
| rs7301724 | XRCC6BP1 | cis | Adipose Subcutaneous | GTEx |
| rs7301724 | XRCC6BP1 | cis | Whole Blood | GTEx |
| rs7301724 | XRCC6BP1 | cis | Esophagus Muscularis | GTEx |
| rs7301724 | XRCC6BP1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs7301724 | XRCC6BP1 | cis | Muscle Skeletal | GTEx |
| rs7301724 | XRCC6BP1 | cis | Heart Left Ventricle | GTEx |
| rs7301724 | XRCC6BP1 | cis | Thyroid | GTEx |
| rs7301724 | XRCC6BP1 | cis | Esophagus Mucosa | GTEx |
| rs7301724 | XRCC6BP1 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:58378000-58393400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
