Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:186024910..186027284-chr1:186045242..186047451,2	K562	blood:
2	chr1:186024136..186026677-chr1:186048146..186050560,2	K562	blood:
3	chr1:186025400..186028423-chr1:186029956..186032798,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1116146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11576597	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11580879	1.00[AMR][1000 genomes]
rs11581389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11586165	0.83[EUR][1000 genomes]
rs12067376	1.00[EUR][1000 genomes]
rs16825012	0.83[EUR][1000 genomes]
rs41317473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317489	0.83[EUR][1000 genomes]
rs41317491	0.83[EUR][1000 genomes]
rs6695626	0.83[EUR][1000 genomes]
rs72707448	0.83[EUR][1000 genomes]
rs72707452	0.83[EUR][1000 genomes]
rs72707455	0.83[EUR][1000 genomes]
rs72707472	0.83[EUR][1000 genomes]
rs72707476	0.83[EUR][1000 genomes]
rs72718862	1.00[AMR][1000 genomes]
rs72718875	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718880	1.00[AMR][1000 genomes]
rs72718885	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720904	0.83[EUR][1000 genomes]
rs72720910	0.83[EUR][1000 genomes]
rs72720911	0.83[EUR][1000 genomes]
rs7518663	0.83[EUR][1000 genomes]
rs9661710	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:186007400-186048000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:186009400-186078000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:186012000-186048200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186013000-186026600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186013600-186068400	Weak transcription	Fetal Kidney	kidney
6	chr1:186016200-186041800	Weak transcription	Aorta	Aorta
7	chr1:186016400-186038600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:186020000-186028000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:186020000-186028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186020000-186062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:186023400-186028000	Weak transcription	Fetal Lung	lung
12	chr1:186023600-186028400	Weak transcription	K562	blood
13	chr1:186023800-186026400	Weak transcription	Liver	Liver
14	chr1:186024600-186026400	Enhancers	NHDF-Ad	bronchial
15	chr1:186024600-186026600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:186024800-186026000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:186024800-186038800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:186024800-186051400	Weak transcription	Left Ventricle	heart

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