Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24553434..24555303-chr20:24556934..24559147,2	MCF-7	breast:

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

rs_ID	r²[population]
rs13039850	0.86[CHD][hapmap]
rs1326299	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1409371	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1575873	0.83[ASN][1000 genomes]
rs1980821	0.80[JPT][hapmap]
rs1980822	0.85[JPT][hapmap]
rs1980823	0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2018095	0.98[ASN][1000 genomes]
rs4815275	0.88[ASN][1000 genomes]
rs4815278	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4815279	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs6036837	0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6036847	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs6049805	1.00[ASW][hapmap];0.83[CEU][hapmap];0.80[CHD][hapmap];0.85[MEX][hapmap];0.88[EUR][1000 genomes]
rs6076238	0.90[ASN][1000 genomes]
rs6083555	0.80[JPT][hapmap]
rs6083558	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6132750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6138330	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6138331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6138332	0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs727409	0.80[CHD][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6083562	CST5	cis	parietal	SCAN
rs6083562	C20orf3	cis	cerebellum	SCAN
rs6083562	SLAIN1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24538800-24570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24549800-24565800	Weak transcription	Thymus	Thymus
3	chr20:24552000-24562200	Weak transcription	Right Ventricle	heart
4	chr20:24553800-24564800	Weak transcription	Brain Anterior Caudate	brain
5	chr20:24554000-24560400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:24554000-24564800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr20:24554600-24560400	Weak transcription	Brain Angular Gyrus	brain
8	chr20:24554600-24562000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:24555800-24564000	Weak transcription	Brain Hippocampus Middle	brain
10	chr20:24556000-24560200	Weak transcription	Brain Substantia Nigra	brain

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