Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44705749..44708436-chr5:44708902..44711292,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10447145	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11746506	0.81[GIH][hapmap]
rs11949847	0.80[EUR][1000 genomes]
rs12188871	0.83[GIH][hapmap]
rs12515012	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13159598	0.81[GIH][hapmap];0.80[TSI][hapmap]
rs13174122	0.81[GIH][hapmap]
rs13179137	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13185555	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371025	0.81[GIH][hapmap]
rs1438825	0.96[EUR][1000 genomes]
rs1438827	0.81[GIH][hapmap]
rs1898701	0.96[EUR][1000 genomes]
rs2013513	0.96[CEU][hapmap]
rs2165009	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2218080	0.88[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs2218081	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs3761650	0.81[GIH][hapmap]
rs4457089	0.83[GIH][hapmap]
rs6451770	0.86[EUR][1000 genomes]
rs6861560	0.96[EUR][1000 genomes]
rs6896350	0.81[GIH][hapmap]
rs714130	0.96[CEU][hapmap]
rs727304	0.83[JPT][hapmap]
rs727305	0.83[GIH][hapmap]
rs7720787	0.81[GIH][hapmap];0.80[TSI][hapmap]
rs920329	0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs930395	0.87[CHB][hapmap]
rs9637783	0.81[GIH][hapmap]

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	nsv830278	chr5:44540863-44713312	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16901937	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs16901937	MRPS30	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44706800-44729200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:44708800-44709200	Enhancers	Hela-S3	cervix

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