Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186052372..186054256-chr1:186063714..186065852,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11576597	0.83[EUR][1000 genomes]
rs11581389	0.83[EUR][1000 genomes]
rs11584685	0.92[EUR][1000 genomes]
rs11586165	1.00[EUR][1000 genomes]
rs11803845	0.92[EUR][1000 genomes]
rs12067376	0.83[EUR][1000 genomes]
rs16825012	1.00[EUR][1000 genomes]
rs16825020	0.85[EUR][1000 genomes]
rs41317473	0.83[EUR][1000 genomes]
rs41317489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693069	0.92[EUR][1000 genomes]
rs6695626	1.00[EUR][1000 genomes]
rs72707448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707459	0.92[EUR][1000 genomes]
rs72707472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707476	1.00[EUR][1000 genomes]
rs72718888	0.83[EUR][1000 genomes]
rs72718900	0.83[EUR][1000 genomes]
rs72720904	1.00[EUR][1000 genomes]
rs72720910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518663	1.00[EUR][1000 genomes]
rs9661710	1.00[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186009400-186078000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:186013600-186068400	Weak transcription	Fetal Kidney	kidney
3	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:186057400-186083800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:186057600-186077800	Weak transcription	Liver	Liver
7	chr1:186057600-186078000	Weak transcription	Aorta	Aorta
8	chr1:186062800-186065400	Weak transcription	Fetal Lung	lung
9	chr1:186063000-186068000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:186063200-186065200	Weak transcription	NHDF-Ad	bronchial
11	chr1:186063800-186071200	Weak transcription	Osteobl	bone
12	chr1:186064000-186094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:186064600-186069000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:186064600-186092000	Weak transcription	Left Ventricle	heart
15	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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