Variant report
Variant | rs490226 |
---|---|
Chromosome Location | chr2:32266206-32266207 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:10)
- CpG islands (count:0)
- Chromatin interactive region (count:13)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ELF1 | chr2:32266036-32266496 | K562 | blood: | n/a | n/a |
2 | ZNF384 | chr2:32265817-32266460 | K562 | blood: | n/a | n/a |
3 | MAX | chr2:32265984-32266292 | K562 | blood: | n/a | n/a |
4 | UBTF | chr2:32266004-32266214 | K562 | blood: | n/a | n/a |
5 | MYC | chr2:32266169-32266688 | K562 | blood: | n/a | n/a |
6 | EGR1 | chr2:32266087-32266282 | K562 | blood: | n/a | n/a |
7 | POLR2A | chr2:32265854-32266320 | K562 | blood: | n/a | n/a |
8 | POLR2A | chr2:32265955-32266324 | K562 | blood: | n/a | n/a |
9 | TBP | chr2:32266063-32266837 | K562 | blood: | n/a | n/a |
10 | EGR1 | chr2:32266012-32266360 | K562 | blood: | n/a | n/a |
No data |
(count:13 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:32264101..32266985-chr2:32387828..32391332,6 | K562 | blood: | |
2 | chr2:32233869..32239615-chr2:32259766..32267170,13 | K562 | blood: | |
3 | chr2:32263820..32266854-chr2:32389080..32393861,5 | MCF-7 | breast: | |
4 | chr2:32256593..32258983-chr2:32264905..32266579,2 | K562 | blood: | |
5 | chr2:32234151..32237531-chr2:32262421..32266825,7 | K562 | blood: | |
6 | chr2:32233050..32238839-chr2:32262715..32266551,10 | MCF-7 | breast: | |
7 | chr2:32262396..32266546-chr2:32286416..32291415,12 | K562 | blood: | |
8 | chr2:32263267..32267327-chr2:32283931..32290396,13 | MCF-7 | breast: | |
9 | chr2:32231133..32238127-chr2:32263164..32266706,7 | MCF-7 | breast: | |
10 | chr2:32264894..32267187-chr2:32274162..32276934,2 | MCF-7 | breast: | |
11 | chr2:32262818..32267061-chr2:32286978..32290820,6 | MCF-7 | breast: | |
12 | chr2:32264868..32267001-chr2:32389298..32391324,2 | K562 | blood: | |
13 | chr2:32186536..32189109-chr2:32265198..32266972,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
DPY30 | TF binding region |
ENSG00000021574 | Chromatin interaction |
ENSG00000152683 | Chromatin interaction |
ENSG00000162959 | Chromatin interaction |
ENSG00000271228 | Chromatin interaction |
ENSG00000272716 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11682335 | 1.00[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs13403364 | 1.00[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs160793 | 1.00[AMR][1000 genomes] |
rs191961 | 1.00[AMR][1000 genomes] |
rs2116030 | 0.81[EUR][1000 genomes] |
rs216536 | 0.90[AFR][1000 genomes] |
rs2365556 | 0.81[EUR][1000 genomes] |
rs420731 | 0.84[AFR][1000 genomes] |
rs469462 | 0.87[AFR][1000 genomes] |
rs483796 | 0.87[EUR][1000 genomes] |
rs486754 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs502824 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs533970 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs552555 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs559693 | 1.00[AMR][1000 genomes] |
rs591625 | 1.00[EUR][1000 genomes] |
rs624859 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs631826 | 1.00[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs648652 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs6543650 | 0.87[EUR][1000 genomes] |
rs7600278 | 1.00[AMR][1000 genomes] |
rs806149 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv532648 | chr2:31591498-32312698 | Weak transcription Enhancers Active TSS Flanking 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 regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
2 | nsv949102 | chr2:32030307-33011548 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 71 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:32264400-32266600 | Active TSS | K562 | blood |
2 | chr2:32265600-32268200 | Weak transcription | Brain Anterior Caudate | brain |
3 | chr2:32265800-32266800 | Weak transcription | HepG2 | liver |