Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144533690..144534509-chr21:28474126..28474626,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000201699	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1023405	0.94[EUR][1000 genomes]
rs1041798	0.96[ASN][1000 genomes]
rs1041799	0.96[ASN][1000 genomes]
rs11910931	0.97[ASN][1000 genomes]
rs12627643	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13433452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039266	0.94[ASN][1000 genomes]
rs2040243	0.93[ASN][1000 genomes]
rs2065250	0.96[ASN][1000 genomes]
rs2065251	0.97[ASN][1000 genomes]
rs2830661	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2830674	0.93[ASN][1000 genomes]
rs2830675	0.93[ASN][1000 genomes]
rs2830677	0.94[ASN][1000 genomes]
rs2830678	0.97[ASN][1000 genomes]
rs2830681	0.96[ASN][1000 genomes]
rs2830682	1.00[ASN][1000 genomes]
rs2830683	1.00[ASN][1000 genomes]
rs28544020	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2898105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8127039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133395	0.93[ASN][1000 genomes]
rs9305300	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9647127	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9974480	0.96[ASN][1000 genomes]
rs9981238	0.93[ASN][1000 genomes]
rs9981850	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9981911	0.93[ASN][1000 genomes]
rs9982753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983332	0.94[ASN][1000 genomes]
rs9983430	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28472000-28477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28473200-28474600	Enhancers	NHDF-Ad	bronchial
4	chr21:28473400-28474600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:28473400-28476000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:28474200-28475600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28474400-28475400	Enhancers	Adipose Nuclei	Adipose

Quick Search: