Variant report
| Variant | rs67092078 |
|---|---|
| Chromosome Location | chr6:27054772-27054773 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:27054006..27058135-chr6:27062347..27065420,4 | MCF-7 | breast: | |
| 2 | chr6:27047926..27050622-chr6:27053669..27055778,2 | MCF-7 | breast: | |
| 3 | chr6:27049749..27052990-chr6:27054483..27056935,3 | K562 | blood: | |
| 4 | chr6:27042382..27045182-chr6:27053789..27055844,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000219770 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs34546498 | 0.91[AMR][1000 genomes] |
| rs55834529 | 0.82[EUR][1000 genomes] |
| rs57440165 | 0.82[AMR][1000 genomes] |
| rs66462181 | 0.84[EUR][1000 genomes] |
| rs66975207 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948921 | chr6:26556890-27443957 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 472 gene(s) | inside rSNPs | diseases |
| 2 | esv2758038 | chr6:26695219-27095714 | Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 67 gene(s) | inside rSNPs | diseases |
| 3 | esv2759410 | chr6:26695219-27095714 | Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 67 gene(s) | inside rSNPs | diseases |
| 4 | nsv1029124 | chr6:26825468-27109774 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 244 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:12)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs67092078 | BTN3A2 | cis | Artery Aorta | GTEx |
| rs67092078 | BTN3A2 | cis | Thyroid | GTEx |
| rs67092078 | BTN3A2 | cis | Muscle Skeletal | GTEx |
| rs67092078 | BTN3A2 | cis | Nerve Tibial | GTEx |
| rs67092078 | BTN3A2 | cis | Esophagus Mucosa | GTEx |
| rs67092078 | BTN3A2 | cis | Artery Tibial | GTEx |
| rs67092078 | BTN3A2 | cis | Esophagus Muscularis | GTEx |
| rs67092078 | BTN3A2 | cis | Heart Left Ventricle | GTEx |
| rs67092078 | BTN3A2 | cis | lung | GTEx |
| rs67092078 | BTN3A2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs67092078 | BTN3A2 | cis | Adipose Subcutaneous | GTEx |
| rs67092078 | BTN3A2 | cis | Whole Blood | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:27051800-27059600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr6:27054400-27055000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
