Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40717090..40719279-chr21:40740133..40742585,2	K562	blood:
2	chr21:40734249..40737056-chr21:40740418..40743217,2	K562	blood:

Variant related genes	Relation type
ENSG00000238556	Chromatin interaction
ENSG00000205581	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11911475	0.88[ASN][1000 genomes]
rs12106311	0.82[ASN][1000 genomes]
rs13433458	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1554933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554934	0.88[ASN][1000 genomes]
rs2735313	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836992	0.85[ASN][1000 genomes]
rs2836996	0.81[AFR][1000 genomes]
rs28629334	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761372	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818027	0.81[ASN][1000 genomes]
rs4818030	0.88[ASN][1000 genomes]
rs4818034	0.82[AFR][1000 genomes]
rs59805871	0.86[ASN][1000 genomes]
rs7279434	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974263	0.86[AFR][1000 genomes]
rs9974653	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9983270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9983368	0.83[ASN][1000 genomes]
rs9983594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs28550626	LCA5L	cis	Nerve Tibial	GTEx
rs28550626	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs28550626	WRB	cis	Adipose Subcutaneous	GTEx
rs28550626	WRB	cis	Nerve Tibial	GTEx
rs28550626	WRB	cis	Whole Blood	GTEx
rs28550626	WRB	cis	lung	GTEx
rs28550626	WRB	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40736600-40741600	Weak transcription	K562	blood
2	chr21:40736800-40741800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:40737000-40741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40737400-40741800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40740000-40742200	Enhancers	Primary neutrophils fromperipheralblood	blood

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