Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32064343..32066158-chr2:32576935..32579070,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1090829	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11677520	1.00[AMR][1000 genomes]
rs160793	0.94[EUR][1000 genomes]
rs160794	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs160810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2093300	0.94[EUR][1000 genomes]
rs2116030	1.00[AMR][1000 genomes]
rs221195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs223618	0.94[EUR][1000 genomes]
rs223619	0.94[EUR][1000 genomes]
rs223624	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs223648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs223654	0.94[EUR][1000 genomes]
rs223663	0.94[EUR][1000 genomes]
rs4141418	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs591625	1.00[AMR][1000 genomes]
rs6543638	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6543639	0.94[EUR][1000 genomes]
rs6708897	0.94[EUR][1000 genomes]
rs7589874	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs806595	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs806596	1.00[AMR][1000 genomes];0.94[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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054400-32080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:32054600-32067800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32054600-32090400	Weak transcription	HSMM	muscle
4	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:32063000-32092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:32063600-32067800	Weak transcription	Liver	Liver
8	chr2:32064600-32065400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
10	chr2:32064800-32065000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:32064800-32065200	Enhancers	A549	lung

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