Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151943398..151945542-chr2:151945977..151948805,2	K562	blood:

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

rs_ID	r²[population]
rs11684212	0.92[EUR][1000 genomes]
rs11687405	0.92[EUR][1000 genomes]
rs11689630	1.00[CHB][hapmap]
rs11690051	0.92[EUR][1000 genomes]
rs11897895	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12692951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13010804	0.81[EUR][1000 genomes]
rs1351928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1351929	0.94[EUR][1000 genomes]
rs1385424	0.94[EUR][1000 genomes]
rs1385427	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1825498	0.87[EUR][1000 genomes]
rs1872389	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2046421	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2068842	0.88[ASN][1000 genomes]
rs4664925	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55936601	0.90[EUR][1000 genomes]
rs58394140	0.94[EUR][1000 genomes]
rs60972942	0.92[EUR][1000 genomes]
rs6433196	0.94[EUR][1000 genomes]
rs73967499	0.92[EUR][1000 genomes]
rs936768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151942400-151958800	Weak transcription	Fetal Brain Female	brain
2	chr2:151942800-151945000	Weak transcription	Fetal Stomach	stomach
3	chr2:151943200-151945800	Weak transcription	Fetal Lung	lung
4	chr2:151943600-151944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:151943800-151944200	Enhancers	Primary T cells from cord blood	blood

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