Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72785270..72787957-chr14:72798250..72801124,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10483843	0.91[YRI][hapmap]
rs1915131	0.81[YRI][hapmap]
rs2079500	0.81[YRI][hapmap]
rs2238202	0.86[JPT][hapmap]
rs2239251	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819550	0.81[YRI][hapmap]
rs58216158	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574066	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147236	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72721902	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72724035	0.91[ASN][1000 genomes]
rs72724044	0.82[ASN][1000 genomes]
rs737498	0.81[YRI][hapmap]
rs8007684	0.86[CHB][hapmap];0.87[MEX][hapmap]
rs8008045	0.86[CHB][hapmap]
rs8010242	0.86[JPT][hapmap]
rs8018927	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8020136	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022845	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs847342	0.86[JPT][hapmap];0.81[YRI][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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2239250	SLC8A3	cis	cerebellum	SCAN
rs2239250	PXDN	trans	lymphoblastoid	seeQTL
rs2239250	ACOT4	cis	parietal	SCAN
rs2239250	ACTN1	cis	parietal	SCAN
rs2239250	DLST	cis	cerebellum	SCAN
rs2239250	TTC9	cis	parietal	SCAN
rs2239250	CNOT3	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72781200-72789400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72785200-72785800	Active TSS	Adipose Nuclei	Adipose
3	chr14:72785200-72786000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72785400-72785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:72785400-72785800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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