Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49348522..49350092-chr13:49351651..49354289,2	MCF-7	breast:
2	chr13:49342669..49345130-chr13:49347475..49349741,3	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12184837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072179	0.82[ASN][1000 genomes]
rs17072181	0.85[ASN][1000 genomes]
rs2147808	0.88[ASN][1000 genomes]
rs28445170	0.82[ASN][1000 genomes]
rs41448845	0.97[ASN][1000 genomes]
rs56686141	1.00[ASN][1000 genomes]
rs56828527	1.00[ASN][1000 genomes]
rs59643165	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319904	0.91[ASN][1000 genomes]
rs7327830	0.82[ASN][1000 genomes]
rs73480212	0.91[ASN][1000 genomes]
rs73480214	0.91[ASN][1000 genomes]
rs73480251	1.00[ASN][1000 genomes]
rs73484311	1.00[ASN][1000 genomes]
rs73484314	1.00[ASN][1000 genomes]
rs895967	0.91[ASN][1000 genomes]
rs9591205	0.84[ASN][1000 genomes]
rs9591207	0.82[ASN][1000 genomes]
rs9591208	0.85[ASN][1000 genomes]
rs9591209	0.82[ASN][1000 genomes]
rs9591210	0.91[ASN][1000 genomes]
rs9591211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9595985	0.82[ASN][1000 genomes]
rs9595986	0.82[ASN][1000 genomes]
rs9595987	0.82[ASN][1000 genomes]
rs9595989	0.85[ASN][1000 genomes]
rs9595990	0.85[ASN][1000 genomes]
rs9595991	0.88[ASN][1000 genomes]
rs9595993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9595994	0.91[ASN][1000 genomes]
rs9595996	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs9596009	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49344000-49349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:49346400-49350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:49346800-49348800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:49346800-49352200	Weak transcription	Left Ventricle	heart
6	chr13:49347400-49352000	Enhancers	Hela-S3	cervix
7	chr13:49347600-49349200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:49347800-49352000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:49348400-49350000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:49348400-49351400	Weak transcription	Placenta	Placenta

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