Variant report
| Variant | rs56114371 |
|---|---|
| Chromosome Location | chr6:27274834-27274835 |
| 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 | chr6:27274352..27276653-chr6:27341401..27344004,2 | K562 | blood: | |
| 2 | chr6:27272702..27275441-chr6:27290945..27293539,2 | K562 | blood: | |
| 3 | chr6:27273565..27277461-chr6:27284741..27287387,3 | K562 | blood: | |
| 4 | chr6:27273015..27275740-chr6:27298464..27301159,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000124613 | Chromatin interaction |
| ENSG00000220758 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs13207082 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs13212562 | 0.80[EUR][1000 genomes] |
| rs28360634 | 0.83[EUR][1000 genomes] |
| rs56401801 | 0.89[EUR][1000 genomes] |
| rs67859638 | 0.81[AMR][1000 genomes] |
| rs71537559 | 0.87[EUR][1000 genomes] |
| rs72839445 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72839477 | 0.81[AMR][1000 genomes];0.83[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 | nsv1017328 | chr6:27177147-27369588 | Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv883505 | chr6:27210614-27300580 | Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 4 | nsv883506 | chr6:27271343-27288687 | Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:14)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs56114371 | BTN3A2 | cis | Muscle Skeletal | GTEx |
| rs56114371 | BTN3A2///BTN3A3 | Cis_1M | lymphoblastoid | RTeQTL |
| rs56114371 | BTN3A2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs56114371 | BTN3A2 | cis | lung | GTEx |
| rs56114371 | BTN3A2 | cis | Esophagus Muscularis | GTEx |
| rs56114371 | BTN3A2 | cis | Esophagus Mucosa | GTEx |
| rs56114371 | BTN3A2 | cis | Artery Aorta | GTEx |
| rs56114371 | BTN3A2 | cis | Whole Blood | GTEx |
| rs56114371 | BTN3A2 | cis | Heart Left Ventricle | GTEx |
| rs56114371 | BTN3A2 | cis | Artery Tibial | GTEx |
| rs56114371 | BTN3A2 | cis | Thyroid | GTEx |
| rs56114371 | BTN3A2 | cis | Nerve Tibial | GTEx |
| rs56114371 | BTN3A2 | Cis_1M | lymphoblastoid | RTeQTL |
| rs56114371 | BTN3A2 | cis | Adipose Subcutaneous | GTEx |
Chromatin state (count:0 , 50 per page) page:
| No data |
