Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46224495..46227137-chr3:46235369..46237758,2	K562	blood:
2	chr3:46224582..46227579-chr3:46229207..46231436,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17078681	1.00[EUR][1000 genomes]
rs17078695	0.86[AFR][1000 genomes]
rs2201148	1.00[EUR][1000 genomes]
rs3136664	1.00[EUR][1000 genomes]
rs3136665	1.00[EUR][1000 genomes]
rs41326147	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41364446	1.00[EUR][1000 genomes]
rs41366344	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41406247	0.82[AFR][1000 genomes]
rs41424051	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41461744	0.82[AFR][1000 genomes]
rs41465848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4547740	1.00[EUR][1000 genomes]
rs56102061	1.00[EUR][1000 genomes]
rs56129454	1.00[EUR][1000 genomes]
rs56947484	1.00[EUR][1000 genomes]
rs57522944	1.00[EUR][1000 genomes]
rs58772082	1.00[EUR][1000 genomes]
rs59047782	1.00[EUR][1000 genomes]
rs59654809	1.00[EUR][1000 genomes]
rs61145486	1.00[EUR][1000 genomes]
rs61752589	1.00[EUR][1000 genomes]
rs6772596	1.00[EUR][1000 genomes]
rs6780714	1.00[EUR][1000 genomes]
rs6793690	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6796282	1.00[EUR][1000 genomes]
rs73830670	1.00[EUR][1000 genomes]
rs73833043	1.00[EUR][1000 genomes]
rs73833044	1.00[EUR][1000 genomes]
rs73833047	1.00[EUR][1000 genomes]
rs73833051	1.00[EUR][1000 genomes]
rs73833052	1.00[EUR][1000 genomes]
rs73833053	1.00[EUR][1000 genomes]
rs753110	1.00[EUR][1000 genomes]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr3:46223600-46231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46224200-46225800	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:46224400-46225600	Enhancers	Primary B cells from cord blood	blood
4	chr3:46224400-46225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:46224600-46225600	Weak transcription	HSMMtube	muscle
6	chr3:46224800-46225800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:46224800-46226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46224800-46226600	Enhancers	NHEK	skin
9	chr3:46225000-46225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:46225000-46226000	Enhancers	HMEC	breast
11	chr3:46225000-46226600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:46225000-46227000	Enhancers	NHDF-Ad	bronchial
13	chr3:46225000-46228200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:46225200-46226400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:46225200-46228400	Weak transcription	Fetal Thymus	thymus
16	chr3:46225200-46228800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:46225400-46227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:46225400-46228000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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