Variant report
| Variant | rs7301701 |
|---|---|
| Chromosome Location | chr12:30682829-30682830 |
| allele | C/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 | chr12:30682382..30684613-chr12:30748743..30750723,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10771711 | 1.00[ASN][1000 genomes] |
| rs10771737 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs10771738 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs10843773 | 0.92[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1354713 | 1.00[ASN][1000 genomes] |
| rs1506386 | 1.00[ASN][1000 genomes] |
| rs1506389 | 1.00[ASN][1000 genomes] |
| rs1506390 | 1.00[ASN][1000 genomes] |
| rs1506393 | 1.00[ASN][1000 genomes] |
| rs1553231 | 1.00[ASN][1000 genomes] |
| rs1588006 | 1.00[ASN][1000 genomes] |
| rs1872366 | 0.97[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs1994243 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2133688 | 1.00[ASN][1000 genomes] |
| rs354098 | 1.00[ASN][1000 genomes] |
| rs4564414 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4931336 | 1.00[ASN][1000 genomes] |
| rs6487916 | 1.00[ASN][1000 genomes] |
| rs6487917 | 0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7302894 | 0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7311808 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs794167 | 0.99[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs7958461 | 1.00[ASN][1000 genomes] |
| rs7968211 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs7968413 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7979977 | 0.88[AMR][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 | esv3343291 | chr12:30455597-30992837 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv469192 | chr12:30678625-30707035 | Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv558029 | chr12:30678625-30707035 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30672600-30686800 | Weak transcription | Ovary | ovary |
| 2 | chr12:30681200-30684200 | Enhancers | K562 | blood |
