Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:40829528..40831180-chr3:64091898..64094307,2	MCF-7	breast:
2	chr20:40818651..40823257-chr20:40826391..40832084,7	MCF-7	breast:
3	chr20:40827178..40830301-chr20:46413214..46415750,3	MCF-7	breast:
4	chr20:40829620..40834300-chr20:55837040..55842828,5	MCF-7	breast:
5	chr20:40824728..40827001-chr20:40828474..40830441,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1014757	1.00[YRI][hapmap]
rs11907014	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12625238	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs13040788	0.80[AFR][1000 genomes]
rs16986670	1.00[YRI][hapmap]
rs1984486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2223718	0.91[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6016694	0.85[CEU][hapmap]
rs6016695	0.85[CEU][hapmap]
rs6016712	0.80[AFR][1000 genomes]
rs6030017	0.93[EUR][1000 genomes]
rs6030058	1.00[YRI][hapmap]
rs6030061	1.00[YRI][hapmap]
rs6030073	1.00[YRI][hapmap]
rs6124429	0.84[AFR][1000 genomes]
rs6130069	0.89[MEX][hapmap];0.93[MKK][hapmap]
rs6130071	0.86[LWK][hapmap]
rs6130073	1.00[YRI][hapmap]
rs6130074	0.90[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6130076	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs6130081	1.00[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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7348444	HNF4A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40828000-40850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40828600-40833000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40829600-40830400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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