Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83546863..83549693-chr15:83583628..83585437,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1037403	0.85[JPT][hapmap]
rs11259960	0.87[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs12050725	0.80[JPT][hapmap]
rs12148275	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441675	0.80[JPT][hapmap]
rs12441914	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17294476	1.00[YRI][hapmap]
rs2046070	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs2061947	0.80[JPT][hapmap];0.85[MKK][hapmap]
rs2123157	0.85[JPT][hapmap]
rs2167602	0.85[JPT][hapmap]
rs4842935	0.85[JPT][hapmap]
rs4843141	0.92[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap]
rs4843145	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4843146	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6603041	0.85[JPT][hapmap]
rs7171095	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8034220	0.84[ASN][1000 genomes]
rs8043020	0.85[JPT][hapmap]
rs872598	0.84[GIH][hapmap];0.89[TSI][hapmap]
rs872599	0.87[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4843144	BTBD1	cis	parietal	SCAN
rs4843144	C15orf5	cis	parietal	SCAN
rs4843144	PSMA4	cis	parietal	SCAN
rs4843144	CIB2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83568200-83585400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:83570400-83591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:83578000-83585200	Weak transcription	Left Ventricle	heart
4	chr15:83581600-83587200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr15:83582600-83585000	Weak transcription	Psoas Muscle	Psoas
6	chr15:83582600-83592600	Enhancers	Liver	Liver
7	chr15:83583000-83587200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:83583200-83597200	Enhancers	Pancreas	Pancrea
9	chr15:83583600-83584800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:83583600-83585200	Weak transcription	HepG2	liver

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