Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79106910..79108695-chr14:79111511..79114093,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483908	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10483912	1.00[JPT][hapmap]
rs12587427	0.86[ASN][1000 genomes]
rs17107907	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17107912	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17107930	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17107978	0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17107986	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17107993	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17108011	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17108021	0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17108027	0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];0.90[ASN][1000 genomes]
rs17108040	1.00[JPT][hapmap]
rs2287495	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs55853427	0.90[ASN][1000 genomes]
rs57416351	0.88[ASN][1000 genomes]
rs58271165	0.86[ASN][1000 genomes]
rs59887424	0.94[ASN][1000 genomes]
rs60568650	0.87[ASN][1000 genomes]
rs61393149	0.86[ASN][1000 genomes]
rs61976092	0.88[ASN][1000 genomes]
rs61976120	0.94[ASN][1000 genomes]
rs6574456	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6574459	0.90[ASN][1000 genomes]
rs7142533	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7153070	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs74064325	0.84[ASN][1000 genomes]
rs8017659	0.87[ASN][1000 genomes]
rs8019422	1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9646166	MLH3	cis	parietal	SCAN
rs9646166	GTF2A1	cis	parietal	SCAN
rs9646166	ZNF410	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79108200-79123600	Weak transcription	Brain Germinal Matrix	brain
2	chr14:79111400-79123200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:79112200-79114800	Weak transcription	Brain Hippocampus Middle	brain

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