Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
2	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000228949	Chromatin interaction
ENSG00000224287	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10174012	1.00[EUR][1000 genomes]
rs10177507	1.00[EUR][1000 genomes]
rs16850570	1.00[EUR][1000 genomes]
rs28901651	1.00[EUR][1000 genomes]
rs28901656	1.00[EUR][1000 genomes]
rs28903676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903693	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903971	1.00[EUR][1000 genomes]
rs28903986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28903987	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28903998	1.00[EUR][1000 genomes]
rs28904021	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28948682	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113209	1.00[EUR][1000 genomes]
rs73124598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124600	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124601	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73999215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234960600-234965600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:234965000-234965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:234965000-234965600	Strong transcription	Liver	Liver

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