Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100866864..100870366-chr2:100873270..100876644,3	K562	blood:
2	chr2:100868663..100870947-chr2:100874796..100876826,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17023659	0.87[ASN][1000 genomes]
rs17023710	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17023801	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17024185	1.00[CEU][hapmap]
rs17024216	1.00[CEU][hapmap]
rs62148077	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148078	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148079	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148080	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148082	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148083	0.87[ASN][1000 genomes]
rs62148084	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148085	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148086	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148087	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148088	0.87[ASN][1000 genomes]
rs62148089	0.87[ASN][1000 genomes]
rs62148090	0.87[ASN][1000 genomes]
rs62148092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62150291	0.87[ASN][1000 genomes]
rs6735369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100859800-100869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:100864000-100869600	Weak transcription	Fetal Brain Female	brain
3	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
5	chr2:100867200-100869600	Weak transcription	Esophagus	oesophagus
6	chr2:100869400-100869600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:100869400-100870200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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