Variant report
| Variant | rs13070392 |
|---|---|
| Chromosome Location | chr3:99941651-99941652 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:99939496..99942041-chr3:99942965..99946163,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000243974 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10936157 | 0.92[CEU][hapmap] |
| rs1214369 | 0.86[EUR][1000 genomes] |
| rs1214372 | 1.00[CEU][hapmap];0.86[EUR][1000 genomes] |
| rs1214373 | 1.00[CEU][hapmap];0.86[EUR][1000 genomes] |
| rs12696084 | 0.96[CEU][hapmap];0.90[EUR][1000 genomes] |
| rs1609481 | 0.89[CEU][hapmap] |
| rs2028494 | 0.89[CEU][hapmap] |
| rs277636 | 1.00[CEU][hapmap];0.89[EUR][1000 genomes] |
| rs277652 | 1.00[CEU][hapmap];0.85[EUR][1000 genomes] |
| rs277654 | 1.00[CEU][hapmap];0.86[EUR][1000 genomes] |
| rs3772698 | 0.88[CEU][hapmap] |
| rs4552390 | 0.88[CEU][hapmap] |
| rs4928119 | 0.89[CEU][hapmap] |
| rs4928169 | 0.89[CEU][hapmap] |
| rs62281675 | 0.90[EUR][1000 genomes] |
| rs6763594 | 0.90[EUR][1000 genomes] |
| rs6808175 | 0.89[EUR][1000 genomes] |
| rs7427443 | 0.89[EUR][1000 genomes] |
| rs7618677 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
| rs7630257 | 0.90[EUR][1000 genomes] |
| rs7637157 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
| rs967608 | 0.88[CEU][hapmap] |
| rs9863738 | 1.00[CEU][hapmap];0.88[EUR][1000 genomes] |
| rs9880795 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
| rs9882337 | 0.89[EUR][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 | nsv817478 | chr3:99474086-99955548 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| 2 | nsv916476 | chr3:99478229-100124625 | Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 46 gene(s) | inside rSNPs | diseases |
| 3 | nsv1003924 | chr3:99933762-100112690 | Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs13070392 | TBC1D23 | cis | Muscle Skeletal | GTEx |
| rs13070392 | TBC1D23 | cis | Heart Left Ventricle | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
