Variant report
| Variant | rs12052995 |
|---|---|
| Chromosome Location | chr2:172537212-172537213 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:172535813..172538723-chr2:172541554..172544032,2 | MCF-7 | breast: | |
| 2 | chr2:172534391..172539104-chr2:172541690..172546156,5 | K562 | blood: | |
| 3 | chr2:172536408..172538619-chr2:172539945..172541778,2 | MCF-7 | breast: | |
| 4 | chr2:172528585..172533406-chr2:172536831..172539990,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000077380 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1028127 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs10930491 | 0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11690807 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12997093 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12998411 | 0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1607254 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs17581284 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs17614941 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2271758 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs2292816 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs34242651 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs34531723 | 0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs35854151 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs3770458 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs4510184 | 0.81[AMR][1000 genomes] |
| rs62184165 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6723259 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9789538 | 0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv997638 | chr2:172442205-172560406 | Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 13 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12052995 | AC068039.4 | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:172536200-172537400 | Weak transcription | K562 | blood |
