Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72740515..72742453-chr14:72744658..72746675,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1029616	0.83[YRI][hapmap]
rs12184980	0.83[YRI][hapmap]
rs1476701	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1879292	0.83[YRI][hapmap]
rs2238202	0.88[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238204	0.83[YRI][hapmap]
rs2238205	0.83[YRI][hapmap]
rs2239259	0.84[CHD][hapmap]
rs4353437	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574061	0.83[YRI][hapmap]
rs6574062	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574064	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574066	0.85[JPT][hapmap]
rs7143932	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144038	0.83[YRI][hapmap]
rs7147236	0.85[JPT][hapmap]
rs7149034	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7152907	0.83[YRI][hapmap]
rs7156910	0.83[YRI][hapmap]
rs7161662	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737499	0.83[YRI][hapmap]
rs8010242	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs8018927	0.85[JPT][hapmap]
rs847342	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv983983	chr14:72741726-72748921	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2079499	NEK9	cis	cerebellum	SCAN
rs2079499	TTC9	cis	parietal	SCAN
rs2079499	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72745000-72747800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:72745400-72748400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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