Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158435698..158436662-chr4:158899463..158900935,8	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10008208	0.86[CEU][hapmap]
rs10012339	0.92[CEU][hapmap]
rs10028490	0.93[CEU][hapmap]
rs10461245	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10461268	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10461269	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731973	0.90[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12645131	0.86[CEU][hapmap]
rs12648410	0.86[CEU][hapmap]
rs14202	0.93[CEU][hapmap]
rs17036927	1.00[JPT][hapmap]
rs2346321	0.86[CEU][hapmap]
rs2881373	0.93[CEU][hapmap]
rs35025809	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234917	0.93[CEU][hapmap]
rs4317248	0.93[CEU][hapmap]
rs4345228	0.93[CEU][hapmap]
rs4389619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4501266	0.85[CEU][hapmap]
rs4691455	0.93[CEU][hapmap]
rs4691461	0.86[CEU][hapmap]
rs6536292	1.00[JPT][hapmap]
rs6536299	0.93[CEU][hapmap]
rs6830702	0.85[CEU][hapmap]
rs6833198	0.86[CEU][hapmap]
rs8370	1.00[CEU][hapmap]
rs9991405	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4457000	FAM198B	cis	Whole Blood	GTEx
rs4457000	RP11-597D13.9	cis	Heart Left Ventricle	GTEx
rs4457000	TMEM144	cis	Esophagus Muscularis	GTEx
rs4457000	TMEM144	cis	Nerve Tibial	GTEx
rs4457000	RP11-597D13.9	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158893400-158901200	Weak transcription	Aorta	Aorta
2	chr4:158900000-158904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:158900200-158903800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:158900400-158903400	Weak transcription	HUVEC	blood vessel
5	chr4:158900400-158903800	Weak transcription	Monocytes-CD14+_RO01746	blood

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