Variant report
| Variant | rs2698087 |
|---|---|
| Chromosome Location | chr12:119274017-119274018 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | REST | chr12:119274009-119274356 | MCF-7 | breast: | n/a | chr12:119274223-119274232 |
| 2 | TEAD4 | chr12:119273678-119274144 | K562 | blood: | n/a | n/a |
| 3 | TAL1 | chr12:119273783-119274124 | K562 | blood: | n/a | n/a |
| 4 | GATA3 | chr12:119273899-119274391 | MCF-7 | breast: | n/a | chr12:119274180-119274196 chr12:119274180-119274196 chr12:119274178-119274199 |
| 5 | GATA2 | chr12:119273783-119274366 | SH-SY5Y | brain: | n/a | chr12:119274180-119274196 chr12:119273867-119273876 chr12:119274180-119274196 chr12:119274178-119274199 |
| 6 | TEAD4 | chr12:119273742-119274095 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:119117331..119119543-chr12:119272928..119275663,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000255814 | TF binding region |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs2698047 | 0.84[EUR][1000 genomes] |
| rs2698093 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2730468 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2730472 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs2730729 | 1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs2730730 | 0.85[EUR][1000 genomes] |
| rs2730731 | 0.87[AMR][1000 genomes];0.95[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 | nsv930978 | chr12:118866332-119450600 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | esv2757516 | chr12:119229694-119294323 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv2759916 | chr12:119229694-119294323 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv826525 | chr12:119247463-119290732 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
