Variant report
Variant | rs9606905 |
---|---|
Chromosome Location | chr22:32516261-32516262 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | RAD21 | chr22:32515824-32516281 | H1-hESC | embryonic stem cell: | n/a | chr22:32516035-32516054 |
2 | CTCF | chr22:32515905-32516288 | MCF-7 | breast: | n/a | chr22:32516034-32516052 |
No data |
(count:7 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | 22:32012966-32043914..22:32513817-32522138 | K562 | blood: | |
2 | 22:32513817-32522138..22:32750950-32761732 | H1-hESC | embryonic stem cell: | embryo |
3 | 22:32513817-32522138..22:32860159-32865649 | K562 | blood: | |
4 | 22:31961151-31976153..22:32513817-32522138 | K562 | blood: | |
5 | 22:32513817-32522138..22:32740683-32750950 | K562 | blood: | |
6 | 22:32513817-32522138..22:32764253-32784733 | H1-hESC | embryonic stem cell: | embryo |
7 | 22:32513817-32522138..22:32868055-32872511 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
AP1B1P1 | TF binding region |
ENSG00000100225 | Chromatin interaction |
ENSG00000198089 | Chromatin interaction |
ENSG00000184459 | Chromatin interaction |
ENSG00000128276 | Chromatin interaction |
ENSG00000205853 | Chromatin interaction |
ENSG00000241954 | Chromatin interaction |
ENSG00000271093 | Chromatin interaction |
ENSG00000241878 | Chromatin interaction |
ENSG00000243519 | Chromatin interaction |
ENSG00000230736 | Chromatin interaction |
ENSG00000232218 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs130256 | 0.88[TSI][hapmap] |
rs130264 | 0.97[MKK][hapmap];0.88[TSI][hapmap] |
rs130405 | 0.81[EUR][1000 genomes] |
rs17683807 | 0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes] |
rs17746358 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs2413069 | 0.94[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs5753861 | 0.83[EUR][1000 genomes] |
rs8141732 | 1.00[ASW][hapmap];0.94[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs9606904 | 0.89[EUR][1000 genomes] |
rs9606907 | 0.82[CEU][hapmap];0.81[GIH][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs9606908 | 0.82[CEU][hapmap];0.94[EUR][1000 genomes] |
rs9609427 | 0.82[CEU][hapmap];0.84[GIH][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs9609429 | 0.90[CHB][hapmap];0.85[CHD][hapmap];0.98[ASN][1000 genomes] |
rs9609432 | 0.98[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs9609441 | 0.94[EUR][1000 genomes] |
rs9609443 | 0.84[EUR][1000 genomes] |
rs9621386 | 0.82[CEU][hapmap];0.81[GIH][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs9621391 | 0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1060529 | chr22:32370432-32525699 | Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 32 gene(s) | inside rSNPs | diseases |
2 | nsv834177 | chr22:32416679-32594663 | Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
3 | nsv948789 | chr22:32462505-32764760 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
4 | nsv1065175 | chr22:32467617-32761093 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
5 | nsv544680 | chr22:32467617-32761093 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
6 | esv2830423 | chr22:32477718-32767825 | Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
7 | esv2422247 | chr22:32486448-32788258 | Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 44 gene(s) | inside rSNPs | diseases |
8 | nsv834178 | chr22:32490449-32677521 | Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
9 | nsv979670 | chr22:32512481-32525114 | Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr22:32515600-32516800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr22:32515600-32520000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr22:32515800-32533600 | Weak transcription | Right Atrium | heart |