Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:116305678..116307612-chr2:116309064..116311243,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10189544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1154727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11694627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12373737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12711826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13001120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1448460	0.82[AFR][1000 genomes]
rs1584402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1712001	0.82[AFR][1000 genomes]
rs1839134	0.82[AFR][1000 genomes]
rs1900747	0.82[AFR][1000 genomes]
rs4849405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59033152	1.00[AMR][1000 genomes]
rs72945935	1.00[AMR][1000 genomes]
rs72945949	1.00[AMR][1000 genomes]
rs72945973	1.00[AMR][1000 genomes]
rs72945985	1.00[AMR][1000 genomes]
rs72945987	1.00[AMR][1000 genomes]
rs72947986	1.00[AMR][1000 genomes]
rs72947993	1.00[AMR][1000 genomes]
rs72947996	1.00[AMR][1000 genomes]
rs72961549	1.00[AMR][1000 genomes]
rs843431	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1550987	TK2	trans	lymphoblastoid	seeQTL
rs1550987	PTTG1IP	trans	lymphoblastoid	seeQTL
rs1550987	CKLF	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116301400-116310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116301400-116315800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:116308000-116309200	Enhancers	Placenta Amnion	Placenta Amnion

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