Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
2	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
3	chr12:104303502..104306754-chr12:104308454..104311860,3	K562	blood:
4	chr12:104304220..104306668-chr12:104315880..104318249,2	K562	blood:
5	chr12:104300006..104302952-chr12:104303475..104307204,4	K562	blood:

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

rs_ID	r²[population]
rs10735390	0.90[YRI][hapmap]
rs10778306	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11111845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11612613	0.88[JPT][hapmap]
rs12427041	0.80[ASN][1000 genomes]
rs12582800	0.87[JPT][hapmap]
rs12582917	0.82[JPT][hapmap]
rs17034880	0.88[JPT][hapmap]
rs17034914	0.88[JPT][hapmap]
rs17795947	0.88[JPT][hapmap]
rs1866072	0.90[YRI][hapmap]
rs2070908	0.90[YRI][hapmap]
rs2576942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576969	0.88[ASW][hapmap];0.95[LWK][hapmap]
rs2722176	0.90[YRI][hapmap]
rs56040534	0.82[ASN][1000 genomes]
rs6615	0.88[JPT][hapmap]
rs728167	0.88[JPT][hapmap]
rs9788014	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs9788136	0.88[JPT][hapmap];0.82[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2722189	ACTR6	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104302800-104306000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104303000-104305600	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:104304000-104306000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:104304200-104305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104304200-104309200	Weak transcription	HSMM	muscle
6	chr12:104304400-104305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:104304400-104309000	Weak transcription	HSMMtube	muscle
8	chr12:104304600-104305800	Weak transcription	Aorta	Aorta

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