Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:119662476..119664701-chr7:119668954..119670873,2	K562	blood:
2	chr7:119664746..119667649-chr7:119667923..119670710,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241500	0.87[AFR][1000 genomes]
rs10249261	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10249750	0.87[AFR][1000 genomes]
rs10256198	0.87[AFR][1000 genomes]
rs10264638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265645	0.87[AFR][1000 genomes]
rs10268575	0.87[AFR][1000 genomes]
rs10270053	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271700	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2190092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2214762	0.84[AMR][1000 genomes]
rs28421683	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963478	0.84[AMR][1000 genomes]
rs6963590	0.84[AMR][1000 genomes]
rs6965513	0.87[AFR][1000 genomes]
rs6967227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806016	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886003	0.91[AFR][1000 genomes];1.00[AMR][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	nsv470388	chr7:119464310-119790102	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2753623	chr7:119532049-119770049	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831112	chr7:119585169-119776619	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1024054	chr7:119638121-119700508	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119667800-119669400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:119668400-119671000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:119668600-119669400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:119668600-119671000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:119668800-119671000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:119669000-119672800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:119669200-119673000	Weak transcription	Muscle Satellite Cultured Cells	--

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