Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:122185637..122187428-chr8:122189414..122191736,2	K562	blood:
2	chr8:122156906..122159303-chr8:122187550..122190679,3	MCF-7	breast:
3	chr8:122185637..122188529-chr8:122188929..122190914,2	K562	blood:
4	chr8:121993332..121994947-chr8:122188899..122191612,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505394	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894726	1.00[AMR][1000 genomes]
rs16894829	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894838	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894879	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894890	0.81[AFR][1000 genomes]
rs16894892	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894895	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57662055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58961797	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59988600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003818	1.00[AMR][1000 genomes]
rs7004176	1.00[AMR][1000 genomes]
rs73318824	0.82[AFR][1000 genomes]
rs73318971	1.00[AMR][1000 genomes]
rs73318973	1.00[AMR][1000 genomes]
rs73318976	1.00[AMR][1000 genomes]
rs73322914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322927	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322930	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324907	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1021839	chr8:122173682-122240824	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:122185600-122190400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:122185800-122190400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:122187800-122190600	Weak transcription	HSMM	muscle
4	chr8:122189200-122190200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:122189600-122189800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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