Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31523708..31525603-chr2:31548016..31550979,2	MCF-7	breast:
2	chr2:31517647..31520271-chr2:31522641..31525033,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12468456	1.00[ASN][1000 genomes]
rs13377	1.00[CHB][hapmap]
rs13394691	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420414	1.00[ASN][1000 genomes]
rs13422633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15056	1.00[CHB][hapmap]
rs17011230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011265	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207440	1.00[CHB][hapmap]
rs207445	1.00[CHB][hapmap]
rs55844041	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55847034	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994653	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56060668	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60852132	1.00[ASN][1000 genomes]
rs62140757	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786972	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786996	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31520200-31525000	Weak transcription	Fetal Lung	lung
2	chr2:31520400-31525800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:31520600-31525000	Weak transcription	Esophagus	oesophagus
4	chr2:31520600-31525800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:31520600-31526000	Weak transcription	Lung	lung
6	chr2:31521000-31526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31521000-31526400	Weak transcription	Right Ventricle	heart
8	chr2:31521000-31527200	Weak transcription	Aorta	Aorta
9	chr2:31521200-31525000	Weak transcription	Left Ventricle	heart
10	chr2:31522600-31528600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:31522800-31527800	Enhancers	Fetal Heart	heart
12	chr2:31522800-31528200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:31523800-31525800	Weak transcription	NHEK	skin
14	chr2:31524000-31525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:31524000-31525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:31524000-31525800	Weak transcription	HMEC	breast
17	chr2:31524000-31526000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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