Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103395510..103397844-chr4:103422825..103425392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109320	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11722146	1.00[YRI][hapmap]
rs11733168	1.00[JPT][hapmap]
rs12509403	0.85[CEU][hapmap]
rs12509517	1.00[YRI][hapmap]
rs1585215	1.00[YRI][hapmap]
rs17032683	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1882949	1.00[JPT][hapmap]
rs2085548	0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs2085549	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs230492	1.00[YRI][hapmap]
rs230509	1.00[YRI][hapmap]
rs230520	1.00[YRI][hapmap]
rs230534	1.00[YRI][hapmap]
rs230539	1.00[YRI][hapmap]
rs230540	1.00[YRI][hapmap]
rs230542	1.00[YRI][hapmap]
rs3774937	0.82[CHD][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4235404	1.00[YRI][hapmap]
rs4456957	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4648055	0.85[TSI][hapmap];1.00[YRI][hapmap]
rs4648085	1.00[YRI][hapmap]
rs4648133	0.82[TSI][hapmap]
rs9996514	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2903281	CISD2	cis	parietal	SCAN
rs2903281	MANBA	cis	parietal	SCAN
rs2903281	BANK1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103393400-103396400	Enhancers	HepG2	liver
2	chr4:103393800-103396400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:103394800-103399200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:103395600-103396400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:103396000-103396600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:103396200-103396600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:103396200-103397400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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