Variant report
| Variant | rs3847678 |
|---|---|
| Chromosome Location | chr12:29551560-29551561 |
| 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 | chr12:29541062..29545013-chr12:29549757..29553223,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257599 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10743657 | 0.80[ASN][1000 genomes] |
| rs10743658 | 0.80[ASN][1000 genomes] |
| rs10843398 | 0.91[CHB][hapmap] |
| rs10843407 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11050226 | 0.81[ASN][1000 genomes] |
| rs12228468 | 0.82[CHB][hapmap];0.81[CHD][hapmap] |
| rs1436321 | 0.83[ASN][1000 genomes] |
| rs1436322 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1436323 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2194515 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2194516 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2278094 | 0.91[CHB][hapmap];0.86[CHD][hapmap];0.80[ASN][1000 genomes] |
| rs6487815 | 0.91[CHB][hapmap];0.80[ASN][1000 genomes] |
| rs6487818 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7133022 | 0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7302557 | 0.80[ASN][1000 genomes] |
| rs7315504 | 0.95[CHB][hapmap];0.80[ASN][1000 genomes] |
| rs7963652 | 0.82[ASN][1000 genomes] |
| rs7978770 | 0.82[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 | nsv995123 | chr12:29095272-29571558 | Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv1053641 | chr12:29268813-29854413 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29550200-29551600 | Weak transcription | HMEC | breast |
