Variant report

No.	Distal block	Cell Line	Cell type
1	chr18:28606623..28609017-chr18:28636811..28638702,2	K562	blood:
2	chr18:28604790..28606677-chr18:28608390..28611343,2	K562	blood:
3	chr18:28592790..28595531-chr18:28608278..28610485,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1125876	1.00[JPT][hapmap]
rs1313592	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1313593	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs1313594	0.88[GIH][hapmap];0.80[TSI][hapmap];0.83[YRI][hapmap]
rs1313596	0.85[GIH][hapmap]
rs1623381	1.00[JPT][hapmap]
rs1658096	0.83[CHD][hapmap];0.81[GIH][hapmap]
rs1658099	1.00[JPT][hapmap]
rs1658102	1.00[JPT][hapmap]
rs166724	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs169347	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs175776	0.82[YRI][hapmap]
rs1789045	0.85[GIH][hapmap]
rs190681	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs202439	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs2640845	1.00[CHB][hapmap]
rs276912	0.88[GIH][hapmap];0.80[MKK][hapmap];0.80[TSI][hapmap]
rs276915	0.88[GIH][hapmap];0.80[MKK][hapmap];0.80[TSI][hapmap]
rs276916	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs276919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276922	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs276942	0.88[GIH][hapmap];0.80[TSI][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	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs276943	FAM59A	cis	parietal	SCAN
rs276943	DSC2	cis	cerebellum	SCAN
rs276943	DSC1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28592600-28614800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:28593600-28611600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:28594000-28611800	Strong transcription	HMEC	breast
4	chr18:28595800-28609000	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr18:28601000-28613800	Weak transcription	Esophagus	oesophagus
6	chr18:28601000-28620800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:28602000-28611600	Strong transcription	NHEK	skin
8	chr18:28602200-28610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:28608600-28609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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