Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183139290..183141946-chr2:183155474..183158091,2	K562	blood:

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1070197	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1196053	1.00[YRI][hapmap]
rs1481629	1.00[YRI][hapmap]
rs16822777	1.00[ASN][1000 genomes]
rs16822784	1.00[ASN][1000 genomes]
rs16822795	1.00[ASN][1000 genomes]
rs16822803	1.00[ASN][1000 genomes]
rs16822812	1.00[ASN][1000 genomes]
rs16822843	1.00[ASN][1000 genomes]
rs16822851	1.00[ASN][1000 genomes]
rs16822918	1.00[ASN][1000 genomes]
rs16822938	1.00[ASN][1000 genomes]
rs2128044	1.00[YRI][hapmap]
rs2170401	1.00[YRI][hapmap]
rs2568665	1.00[YRI][hapmap]
rs2568666	1.00[YRI][hapmap]
rs2568683	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2568684	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2568686	0.83[AFR][1000 genomes]
rs2623420	1.00[YRI][hapmap]
rs2623424	1.00[YRI][hapmap]
rs300882	1.00[YRI][hapmap]
rs300883	1.00[YRI][hapmap]
rs300887	1.00[YRI][hapmap]
rs300888	0.83[AFR][1000 genomes]
rs711807	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73032449	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73036255	1.00[ASN][1000 genomes]
rs833121	1.00[YRI][hapmap]
rs833130	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs833131	1.00[YRI][hapmap]
rs833134	1.00[ASN][1000 genomes]
rs833138	1.00[ASN][1000 genomes]
rs833139	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs833157	1.00[ASN][1000 genomes]
rs833169	1.00[YRI][hapmap]
rs922731	1.00[YRI][hapmap]
rs922732	1.00[YRI][hapmap]
rs964756	1.00[YRI][hapmap]

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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183132200-183141200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:183138200-183148000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:183139000-183147200	Weak transcription	Aorta	Aorta

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