Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71780085..71783168-chr14:71784973..71787067,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12878009	0.92[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs12897119	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs193440	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[EUR][1000 genomes]
rs193441	0.82[EUR][1000 genomes]
rs193442	0.80[EUR][1000 genomes]
rs193443	0.83[EUR][1000 genomes]
rs2041330	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41217	0.81[EUR][1000 genomes]
rs41218	0.88[EUR][1000 genomes]
rs41219	0.84[EUR][1000 genomes]
rs41224	0.84[EUR][1000 genomes]
rs41225	0.85[EUR][1000 genomes]
rs41227	0.83[EUR][1000 genomes]
rs41229	0.89[EUR][1000 genomes]
rs4464023	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[TSI][hapmap]
rs7153726	0.92[EUR][1000 genomes]
rs8007271	0.87[EUR][1000 genomes]
rs8007521	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs8023058	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs917391	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8016217	VSX2	cis	parietal	SCAN
rs8016217	SLC8A3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71771800-71786400	Weak transcription	Pancreas	Pancrea
2	chr14:71772800-71786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:71779800-71786400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:71781800-71786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:71781800-71786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:71782000-71786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:71782200-71786200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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