Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154475458..154478110-chr5:154501032..154502578,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10038694	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10050521	0.82[AFR][1000 genomes]
rs1005789	0.82[AFR][1000 genomes]
rs1008795	0.86[AFR][1000 genomes]
rs11167708	0.85[CEU][hapmap]
rs12153386	0.84[CEU][hapmap]
rs12519670	0.85[CEU][hapmap]
rs13155597	0.86[JPT][hapmap]
rs1319694	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17572520	0.81[JPT][hapmap]
rs6868742	0.85[CEU][hapmap]
rs6868904	0.85[CEU][hapmap]
rs6890098	0.83[CEU][hapmap]
rs6890664	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898774	0.85[CEU][hapmap]
rs7703759	0.81[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9285651	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9324802	0.82[EUR][1000 genomes]
rs9324804	0.86[AFR][1000 genomes]
rs9324805	0.86[AFR][1000 genomes]
rs988435	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs991314	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv883059	chr5:154457905-154556230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10038971	SGCD	cis	parietal	SCAN
rs10038971	CNOT8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154472400-154483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:154472800-154477600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:154475000-154477600	Weak transcription	Left Ventricle	heart
4	chr5:154476000-154477800	Weak transcription	Fetal Heart	heart
5	chr5:154476000-154477800	Weak transcription	Right Ventricle	heart

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