Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1995237..1997654-chr8:2003942..2005517,2	K562	blood:

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

rs_ID	r²[population]
rs13261654	0.80[EUR][1000 genomes]
rs13264316	0.82[EUR][1000 genomes]
rs13265964	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542063	0.96[ASN][1000 genomes]
rs1542064	0.96[ASN][1000 genomes]
rs1542065	0.96[ASN][1000 genomes]
rs34757246	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779861	0.92[ASN][1000 genomes]
rs4875923	0.92[ASN][1000 genomes]
rs4875925	0.96[ASN][1000 genomes]
rs4875926	0.96[ASN][1000 genomes]
rs4875927	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4876235	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4876236	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6558590	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6558591	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7461903	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463722	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833402	0.96[ASN][1000 genomes]
rs7833424	0.96[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1991600-2005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1999000-2005400	Weak transcription	Right Atrium	heart
3	chr8:2001000-2006600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:2002400-2010400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:2002600-2007000	Weak transcription	Psoas Muscle	Psoas
6	chr8:2003200-2007400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr8:2003400-2006000	Genic enhancers	Left Ventricle	heart
8	chr8:2004200-2005400	Weak transcription	Right Ventricle	heart
9	chr8:2004400-2005400	Weak transcription	Fetal Heart	heart
10	chr8:2004600-2005400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:2004800-2005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:2004800-2005600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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