Variant report
| Variant | rs11172307 |
|---|---|
| Chromosome Location | chr12:39881795-39881796 |
| 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 | chr12:39835157..39838438-chr12:39876568..39883388,6 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139116 | Chromatin interaction |
| ENSG00000252974 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11172201 | 1.00[AFR][1000 genomes] |
| rs11172617 | 1.00[AFR][1000 genomes] |
| rs11172644 | 1.00[AFR][1000 genomes] |
| rs11172676 | 1.00[AFR][1000 genomes] |
| rs11172696 | 1.00[AFR][1000 genomes] |
| rs11172702 | 1.00[AFR][1000 genomes] |
| rs11172793 | 1.00[AFR][1000 genomes] |
| rs58946919 | 1.00[AFR][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 | nsv531527 | chr12:39680812-40182822 | Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv1044049 | chr12:39845078-39922808 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1051709 | chr12:39846990-39899051 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
