Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:60464696..60468583-chr12:60490353..60494821,4	MCF-7	breast:
2	chr12:60466885..60469119-chr12:60493136..60496064,3	MCF-7	breast:
3	chr12:60483685..60486608-chr12:60491764..60494624,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10784027	0.82[AMR][1000 genomes]
rs10784028	0.87[AMR][1000 genomes]
rs10784029	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877403	0.83[MEX][hapmap]
rs11173338	0.85[AMR][1000 genomes]
rs1389255	0.87[AMR][1000 genomes]
rs1602837	0.84[ASN][1000 genomes]
rs2014074	0.87[AMR][1000 genomes]
rs2172500	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3847662	0.87[AMR][1000 genomes]
rs3847663	0.91[MEX][hapmap];0.87[AMR][1000 genomes]
rs3907482	0.85[AMR][1000 genomes]
rs4093759	0.89[AMR][1000 genomes]
rs4625509	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4758855	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134663	0.87[AMR][1000 genomes]
rs7135031	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7298315	0.87[AMR][1000 genomes]
rs7300532	0.86[AMR][1000 genomes]
rs7302607	0.89[AMR][1000 genomes]
rs735926	0.80[AMR][1000 genomes]
rs7967860	0.86[AMR][1000 genomes]
rs7977065	0.89[AMR][1000 genomes]
rs992478	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv826394	chr12:60491264-60516940	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11173319	KIAA1143	trans	lymphoblastoid	RTeQTL
rs11173319	RDH5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60492800-60493600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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