Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153172113..153174488-chr2:153175985..153178219,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10171232	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181910	0.90[EUR][1000 genomes]
rs10188437	0.90[EUR][1000 genomes]
rs10203197	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693278	0.90[EUR][1000 genomes]
rs13394982	0.90[EUR][1000 genomes]
rs13408985	0.81[EUR][1000 genomes]
rs13420003	0.90[EUR][1000 genomes]
rs2346197	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35406869	0.90[EUR][1000 genomes]
rs4605323	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664099	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433928	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722815	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726207	0.90[EUR][1000 genomes]
rs6742139	0.90[EUR][1000 genomes]
rs6760070	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002837	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590270	0.90[EUR][1000 genomes]
rs7604840	0.90[EUR][1000 genomes]
rs7607862	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288076	0.90[EUR][1000 genomes]
rs9288079	0.90[EUR][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	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153176000-153177800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:153176200-153177600	Enhancers	Placenta	Placenta
3	chr2:153176400-153177000	Enhancers	HSMM	muscle
4	chr2:153176400-153177200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:153176400-153177400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:153176400-153177600	Enhancers	NHEK	skin
7	chr2:153176600-153177000	Enhancers	HMEC	breast
8	chr2:153176600-153177600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:153176800-153177000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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