Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37848424..37851198-chr21:37861596..37863686,2	K562	blood:

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

rs_ID	r²[population]
rs170182	0.88[ASN][1000 genomes]
rs2071051	0.84[ASN][1000 genomes]
rs219759	0.82[ASN][1000 genomes]
rs2249115	0.87[ASN][1000 genomes]
rs2633334	0.87[ASN][1000 genomes]
rs2776290	0.84[ASN][1000 genomes]
rs2845764	0.86[ASN][1000 genomes]
rs2845766	0.87[ASN][1000 genomes]
rs2845769	0.87[ASN][1000 genomes]
rs2850102	0.80[ASN][1000 genomes]
rs2850108	0.84[ASN][1000 genomes]
rs2850110	0.87[ASN][1000 genomes]
rs2850115	0.84[ASN][1000 genomes]
rs35030913	0.82[ASN][1000 genomes]
rs35599107	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35857368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55666618	0.94[ASN][1000 genomes]
rs59059205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59285877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59724458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37852000-37871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37852400-37864800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:37853200-37863600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:37858600-37864800	Weak transcription	Gastric	stomach
5	chr21:37858600-37881600	Weak transcription	Right Atrium	heart
6	chr21:37858800-37863400	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:37860600-37863000	Weak transcription	NH-A	brain
8	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
9	chr21:37861600-37862600	Enhancers	Fetal Thymus	thymus
10	chr21:37862000-37872000	Weak transcription	HSMMtube	muscle

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