Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205357799..205359653-chr2:205368261..205370276,2	K562	blood:

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

rs_ID	r²[population]
rs10490267	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1156249	0.81[EUR][1000 genomes]
rs12990859	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13001546	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13003798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13005161	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13007075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13010221	0.83[AMR][1000 genomes]
rs13021097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13024043	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1447490	0.81[EUR][1000 genomes]
rs1550909	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17637637	0.83[AMR][1000 genomes]
rs17637778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34816339	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35207649	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60341493	0.83[ASN][1000 genomes]
rs71427750	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71427751	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs921163	0.94[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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205351800-205359800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:205356200-205359600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:205356600-205359800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:205356600-205366000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:205359200-205359800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:205359200-205360000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:205359400-205360000	Enhancers	NHEK	skin
8	chr2:205359400-205361400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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