Variant report
| Variant | rs4318046 |
|---|---|
| Chromosome Location | chr12:121075095-121075096 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:121074234..121078810-chr12:121086912..121091656,5 | K562 | blood: | |
| 2 | chr12:121074234..121076359-chr12:121087348..121089944,2 | K562 | blood: | |
| 3 | chr12:121071082..121074482-chr12:121074766..121077938,3 | K562 | blood: | |
| 4 | chr12:121072186..121075880-chr12:121076438..121081200,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000157782 | Chromatin interaction |
| ENSG00000256008 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10849772 | 0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs11065176 | 0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11065178 | 0.99[ASN][1000 genomes] |
| rs11065180 | 0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12310124 | 0.86[ASN][1000 genomes] |
| rs12317166 | 0.85[ASN][1000 genomes] |
| rs12370780 | 0.86[ASN][1000 genomes] |
| rs4300462 | 0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4766974 | 0.85[ASN][1000 genomes] |
| rs7974387 | 0.86[ASN][1000 genomes] |
| rs7976299 | 0.85[ASN][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 | nsv521928 | chr12:121041728-121761800 | Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 68 gene(s) | inside rSNPs | diseases |
| 2 | nsv899557 | chr12:121069201-121189116 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 3 | nsv1037070 | chr12:121069938-121459047 | Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
