Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22816382..22818106-chr4:22821091..22824068,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOD3-13	chr4:22823158-22825371	NONHSAT095768

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs118834	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1485824	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168578	0.98[EUR][1000 genomes]
rs183084	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1843481	0.91[EUR][1000 genomes]
rs3099557	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs358226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs358227	0.92[EUR][1000 genomes]
rs358231	0.83[CEU][hapmap];0.84[CHD][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs358235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs358236	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs358238	1.00[CEU][hapmap];0.84[CHD][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes]
rs358239	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs358240	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs358248	0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs358251	0.82[ASN][1000 genomes]
rs358257	0.82[ASN][1000 genomes]
rs369697	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs370843	0.84[ASN][1000 genomes]
rs420777	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs453881	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005733	chr4:22747306-22833517	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv520813	chr4:22783714-22824021	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs358228	GBA3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22786000-22828600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:22822000-22823600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:22822000-22823800	Enhancers	Fetal Brain Female	brain
4	chr4:22822000-22833800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:22822600-22824400	Weak transcription	Liver	Liver

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