Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10785491	1.00[TSI][hapmap]
rs12306662	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2699993	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4323934	1.00[ASN][1000 genomes]
rs4474500	0.87[GIH][hapmap];1.00[EUR][1000 genomes]
rs55996795	0.82[ASN][1000 genomes]
rs56737736	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57065008	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57781916	1.00[ASN][1000 genomes]
rs58703100	1.00[ASN][1000 genomes]
rs61285473	1.00[ASN][1000 genomes]
rs7298388	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73085755	1.00[ASN][1000 genomes]
rs73286225	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286232	1.00[ASN][1000 genomes]
rs73286235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286249	1.00[ASN][1000 genomes]
rs73286255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286259	1.00[ASN][1000 genomes]
rs74084785	1.00[ASN][1000 genomes]
rs7965099	0.81[GIH][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
4	chr12:44383600-44394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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