Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186003708..186006239-chr1:186011821..186013466,2	K562	blood:
2	chr1:186003098..186005209-chr1:186006436..186008322,2	K562	blood:

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

rs_ID	r²[population]
rs1116146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11580879	1.00[AMR][1000 genomes]
rs11581389	0.83[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718880	1.00[AMR][1000 genomes]
rs72718885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718900	0.83[AFR][1000 genomes];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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:185964200-186014800	Weak transcription	Lung	lung
3	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart
4	chr1:185986400-186006400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:185993200-186023000	Weak transcription	Liver	Liver
6	chr1:186001400-186019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:186003000-186004400	Enhancers	Hela-S3	cervix
8	chr1:186003200-186004200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:186003400-186006600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186003600-186004200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:186003600-186004200	Enhancers	Fetal Lung	lung
12	chr1:186003600-186011200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:186003800-186004600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:186003800-186016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:186004000-186015200	Weak transcription	Aorta	Aorta

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