Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172415047..172416948-chr2:172421337..172423038,2	K562	blood:
2	chr2:172415448..172419850-chr2:172420301..172425378,5	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1047023	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047109	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047255	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17222641	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288588	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821083	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638996	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55852614	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862034	0.83[ASN][1000 genomes]
rs55877758	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228832	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372408	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884332	0.83[ASN][1000 genomes]
rs72884356	0.83[ASN][1000 genomes]
rs72884400	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885909	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885911	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885966	0.84[AMR][1000 genomes]
rs7585974	0.83[ASN][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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs72885917	CYBRD1	cis	Esophagus Muscularis	GTEx
rs72885917	CYBRD1	cis	Adipose Subcutaneous	GTEx
rs72885917	CYBRD1	cis	Artery Tibial	GTEx
rs72885917	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172386400-172419800	Weak transcription	Lung	lung
2	chr2:172400000-172416400	Weak transcription	Gastric	stomach
3	chr2:172411800-172419000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:172412400-172416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:172412400-172417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:172412600-172416800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:172412600-172420000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:172412800-172416800	Weak transcription	Ovary	ovary
9	chr2:172412800-172417200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:172412800-172417600	Weak transcription	NHDF-Ad	bronchial
11	chr2:172412800-172418800	Weak transcription	NHLF	lung
12	chr2:172412800-172421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:172412800-172421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:172413000-172420800	Weak transcription	Aorta	Aorta
15	chr2:172413400-172418400	Weak transcription	Left Ventricle	heart
16	chr2:172413600-172417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:172413600-172422400	Weak transcription	Adipose Nuclei	Adipose
18	chr2:172414200-172420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:172414400-172416400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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