Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1003258	0.81[CHB][hapmap]
rs10135926	0.81[CHB][hapmap]
rs11846919	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588572	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1569012	0.81[CHB][hapmap]
rs17111790	0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs2371596	0.81[CHB][hapmap]
rs2371599	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3844534	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs3915222	0.81[CHB][hapmap]
rs4275784	0.81[CHB][hapmap]
rs4290414	0.90[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs4903982	0.81[CHB][hapmap]
rs6574651	0.81[CHB][hapmap]
rs6574653	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6574654	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6574655	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7145713	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153556	0.81[CHB][hapmap]
rs7153600	0.81[CHB][hapmap]
rs7156951	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7160907	0.86[CHB][hapmap]
rs8022070	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs9652383	0.81[CHB][hapmap]

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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2371602	NGB	cis	cerebellum	SCAN
rs2371602	STON2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81910600-81915400	Weak transcription	Aorta	Aorta
3	chr14:81912000-81913600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr14:81912000-81913800	Enhancers	HSMM	muscle
5	chr14:81912200-81913200	Enhancers	HepG2	liver
6	chr14:81912200-81915000	Enhancers	Fetal Muscle Leg	muscle

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