Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86557932..86559986-chr2:86586521..86589056,2	MCF-7	breast:
2	chr2:86588403..86590513-chr2:86593464..86596116,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10169091	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10178917	0.91[ASN][1000 genomes]
rs1113169	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11678201	0.80[EUR][1000 genomes]
rs11687162	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs11903855	0.88[CEU][hapmap];0.80[MEX][hapmap]
rs12617075	0.87[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs12714181	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12714182	0.84[MEX][hapmap]
rs13035266	0.84[ASN][1000 genomes]
rs13383096	0.82[ASN][1000 genomes]
rs13405197	0.82[ASW][hapmap];0.89[LWK][hapmap]
rs2113607	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832279	1.00[ASN][1000 genomes]
rs4832280	1.00[ASN][1000 genomes]
rs4832282	0.87[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs6713586	0.92[CEU][hapmap]
rs6756146	0.92[CEU][hapmap]
rs766285	0.82[JPT][hapmap]
rs908791	0.84[ASN][1000 genomes]

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4832278	PTCD3	cis	cerebellum	SCAN
rs4832278	KDM3A	cis	cerebellum	SCAN
rs4832278	POLR1A	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86587400-86589000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:86588400-86594200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:86588400-86595200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:86588600-86592400	Weak transcription	Pancreas	Pancrea
5	chr2:86588600-86593000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:86588800-86593400	Weak transcription	Fetal Intestine Large	intestine

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