Variant report
Variant | rs12649590 |
---|---|
Chromosome Location | chr4:158689360-158689361 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | GATA3 | chr4:158689202-158690070 | SK-N-SH | brain: | n/a | chr4:158689729-158689745 chr4:158689731-158689738 |
2 | GATA2 | chr4:158688514-158690132 | SH-SY5Y | brain: | n/a | chr4:158689729-158689745 chr4:158688987-158688998 chr4:158689731-158689738 |
3 | EP300 | chr4:158688783-158690468 | SK-N-SH | brain: | n/a | chr4:158689707-158689721 chr4:158689041-158689055 chr4:158689386-158689396 chr4:158689610-158689624 |
4 | EP300 | chr4:158689170-158689447 | SK-N-SH_RA | brain: | n/a | chr4:158689386-158689396 |
5 | GATA3 | chr4:158689353-158690211 | SK-N-SH | brain: | n/a | chr4:158689729-158689745 chr4:158689731-158689738 |
6 | GATA3 | chr4:158688855-158690109 | SH-SY5Y | brain: | n/a | chr4:158689729-158689745 chr4:158688987-158688998 chr4:158689731-158689738 |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000200521 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10857305 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11737503 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12500586 | 0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12642686 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12647578 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13125187 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1383695 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1383696 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1481226 | 0.95[ASN][1000 genomes] |
rs17036707 | 0.89[ASN][1000 genomes] |
rs17036710 | 0.88[ASN][1000 genomes] |
rs4691443 | 0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6536271 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs6818862 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs756334 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7659435 | 0.99[ASN][1000 genomes] |
rs7669877 | 0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7681081 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs985510 | 0.87[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1020294 | chr4:157722712-158691771 | Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
2 | nsv537313 | chr4:157722712-158691771 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
3 | nsv1018387 | chr4:157959931-158764190 | Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
4 | nsv993476 | chr4:158550643-159202015 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:158686200-158689800 | Weak transcription | Fetal Intestine Large | intestine |