Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40717090..40719279-chr21:40740133..40742585,2	K562	blood:
2	chr21:40734249..40737056-chr21:40740418..40743217,2	K562	blood:
3	chr21:40741013..40744559-chr21:40749418..40754274,4	K562	blood:

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

rs_ID	r²[population]
rs11911475	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12106311	0.92[ASN][1000 genomes]
rs13433458	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1554933	0.89[ASN][1000 genomes]
rs1554934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239384	0.87[ASN][1000 genomes]
rs2735313	0.81[EUR][1000 genomes]
rs2836990	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836992	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28550626	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28629334	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761372	0.89[ASN][1000 genomes]
rs4818027	0.90[ASN][1000 genomes]
rs59805871	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279434	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73364034	0.81[EUR][1000 genomes]
rs8132324	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9983270	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9983368	0.92[ASN][1000 genomes]
rs9983594	0.82[EUR][1000 genomes];0.85[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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9974653	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs9974653	WRB	cis	Whole Blood	GTEx
rs9974653	WRB	cis	Artery Tibial	GTEx
rs9974653	WRB	cis	lung	GTEx
rs9974653	WRB	cis	Nerve Tibial	GTEx
rs9974653	LCA5L	cis	Esophagus Mucosa	GTEx
rs9974653	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs9974653	LCA5L	cis	Thyroid	GTEx
rs9974653	WRB	cis	Esophagus Muscularis	GTEx
rs9974653	LCA5L	cis	lung	GTEx
rs9974653	LCA5L	cis	Nerve Tibial	GTEx
rs9974653	WRB	cis	Adipose Subcutaneous	GTEx
rs9974653	WRB	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40740000-40742200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr21:40741000-40742000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:40741200-40742200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40741200-40743600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:40741400-40742000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr21:40741600-40742400	Enhancers	K562	blood
7	chr21:40741800-40742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40741800-40742400	Enhancers	HepG2	liver
9	chr21:40741800-40743000	Enhancers	Primary hematopoietic stem cells	blood

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