Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54484339..54487023-chr4:54487533..54490368,2	K562	blood:

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

rs_ID	r²[population]
rs1079230	0.85[ASN][1000 genomes]
rs1107027	0.89[ASN][1000 genomes]
rs1477875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477876	0.91[ASN][1000 genomes]
rs1546526	0.89[ASN][1000 genomes]
rs1972815	0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs1996005	0.89[ASN][1000 genomes]
rs2164266	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572283	0.91[ASN][1000 genomes]
rs2572291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590780	0.85[ASN][1000 genomes]
rs2590781	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2590816	0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2616386	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2616417	0.94[YRI][hapmap]
rs2668516	0.91[ASN][1000 genomes]
rs2668521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668524	0.89[ASN][1000 genomes]
rs2668529	0.89[ASN][1000 genomes]
rs2668549	0.89[ASN][1000 genomes]
rs2668566	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7686480	0.83[ASN][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1004253	chr4:54471388-54494983	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1010881	chr4:54471545-54494983	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54485200-54505800	Weak transcription	Esophagus	oesophagus
2	chr4:54486800-54489600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54487800-54489600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:54488200-54489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:54488400-54489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:54488600-54489400	Enhancers	NHDF-Ad	bronchial
7	chr4:54488600-54489600	Enhancers	Placenta	Placenta
8	chr4:54488800-54489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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