Variant report
| Variant | rs7558132 |
|---|---|
| Chromosome Location | chr2:173934771-173934772 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:173919027..173921346-chr2:173933987..173935523,2 | MCF-7 | breast: | |
| 2 | chr2:173909580..173911400-chr2:173932850..173935097,2 | MCF-7 | breast: | |
| 3 | chr2:173930762..173936707-chr2:173937073..173941101,12 | MCF-7 | breast: | |
| 4 | chr2:173922130..173925125-chr2:173934034..173936913,2 | K562 | blood: | |
| 5 | chr2:173913477..173915718-chr2:173932935..173935387,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000091436 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10180382 | 0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11681384 | 1.00[ASN][1000 genomes] |
| rs11692252 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1545516 | 0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2034647 | 0.82[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2044515 | 0.89[ASN][1000 genomes] |
| rs2358084 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs3754748 | 0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs3769207 | 0.89[ASN][1000 genomes] |
| rs6718374 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6727541 | 0.82[ASN][1000 genomes] |
| rs6733082 | 0.86[ASN][1000 genomes] |
| rs6758859 | 0.81[ASN][1000 genomes] |
| rs7558553 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7608532 | 0.95[ASN][1000 genomes] |
| rs9636294 | 0.86[ASN][1000 genomes] |
| rs989531 | 0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs989532 | 0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs990416 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs990417 | 0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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 | nsv1011724 | chr2:173916482-174231908 | Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv834460 | chr2:173919464-174085288 | Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7558132 | ZAK | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:173920600-173937200 | Weak transcription | Psoas Muscle | Psoas |
| 2 | chr2:173934000-173940000 | Weak transcription | Pancreas | Pancrea |
