Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
2	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
3	chr2:55942470..55944889-chr2:56004945..56007451,2	MCF-7	breast:
4	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
5	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11125600	0.85[ASN][1000 genomes]
rs11676678	0.89[ASN][1000 genomes]
rs11684982	0.89[ASN][1000 genomes]
rs11693187	0.85[ASN][1000 genomes]
rs11694759	0.89[ASN][1000 genomes]
rs11694790	0.89[ASN][1000 genomes]
rs11887339	0.89[ASN][1000 genomes]
rs12614845	0.89[ASN][1000 genomes]
rs13404193	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430198	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430199	0.89[ASN][1000 genomes]
rs1430200	0.89[ASN][1000 genomes]
rs1465624	0.89[ASN][1000 genomes]
rs1465625	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1961386	0.82[AMR][1000 genomes]
rs4233963	0.83[ASN][1000 genomes]
rs4672069	0.89[ASN][1000 genomes]
rs6723918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6742316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6747885	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7560508	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7577894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309269	0.89[ASN][1000 genomes]
rs9309270	0.94[ASN][1000 genomes]
rs934274	0.92[ASN][1000 genomes]
rs934275	0.92[ASN][1000 genomes]
rs934276	0.89[ASN][1000 genomes]
rs934277	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56002400-56006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:56003600-56007200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:56005400-56006600	Enhancers	HUVEC	blood vessel
5	chr2:56005600-56008800	Enhancers	HSMM	muscle
6	chr2:56006000-56007000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:56006200-56006600	Enhancers	NHEK	skin
8	chr2:56006200-56006800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:56006200-56010200	Enhancers	Hela-S3	cervix
10	chr2:56006400-56006600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:56006400-56006600	Enhancers	HMEC	breast
12	chr2:56006400-56006600	Enhancers	NH-A	brain
13	chr2:56006400-56006800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:56006400-56007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56006400-56008200	Flanking Active TSS	A549	lung
16	chr2:56006400-56008200	Enhancers	HSMMtube	muscle
17	chr2:56006400-56008200	Enhancers	Osteobl	bone
18	chr2:56006400-56009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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