Variant report
Variant | rs11111913 |
---|---|
Chromosome Location | chr12:104557760-104557761 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:104545972..104549947-chr12:104555023..104560302,4 | K562 | blood: | |
2 | chr12:104553666..104555639-chr12:104557708..104559504,2 | K562 | blood: | |
3 | chr12:104542011..104544016-chr12:104556575..104558622,2 | MCF-7 | breast: | |
4 | chr12:104556259..104558196-chr12:104560422..104562244,2 | K562 | blood: | |
5 | chr12:104531056..104533803-chr12:104557719..104561243,4 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000120837 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11111921 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs11111938 | 0.81[ASN][1000 genomes] |
rs2629745 | 0.84[EUR][1000 genomes] |
rs4628754 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4964635 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6539125 | 0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7310815 | 0.82[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs7311546 | 0.82[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs7312300 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7954970 | 0.82[AMR][1000 genomes];0.84[ASN][1000 genomes] |
rs7966740 | 0.82[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1045725 | chr12:104524153-104614108 | Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 32 gene(s) | inside rSNPs | n/a |
2 | nsv541586 | chr12:104524153-104614108 | Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 32 gene(s) | inside rSNPs | n/a |
3 | esv1836100 | chr12:104531180-104558476 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | n/a |
4 | esv1836581 | chr12:104531180-104558476 | Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | n/a |
5 | esv1842062 | chr12:104531180-104638773 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | n/a |
6 | nsv899493 | chr12:104548613-104703228 | Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:104533000-104560600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |