Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16428430..16430203-chr11:16538247..16541152,2	K562	blood:

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

rs_ID	r²[population]
rs10734247	1.00[AMR][1000 genomes]
rs12225686	1.00[AMR][1000 genomes]
rs1354327	1.00[AMR][1000 genomes]
rs1354328	1.00[AMR][1000 genomes]
rs1503444	1.00[AMR][1000 genomes]
rs1995466	1.00[AMR][1000 genomes]
rs297330	1.00[ASN][1000 genomes]
rs4247300	1.00[AMR][1000 genomes]
rs4287304	0.92[AFR][1000 genomes]
rs4369362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4547057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4643039	1.00[AMR][1000 genomes]
rs4756854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4757406	0.94[AFR][1000 genomes]
rs61883865	0.92[AFR][1000 genomes]
rs6486291	1.00[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110090	0.85[LWK][hapmap];0.95[MKK][hapmap];1.00[AMR][1000 genomes]
rs7126947	1.00[AMR][1000 genomes]
rs7932293	1.00[AMR][1000 genomes]
rs7933676	1.00[AMR][1000 genomes]
rs7937573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1035768	chr11:16530440-16578566	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2761650	chr11:16530452-16541623	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10766330	TMPRSS3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16533800-16541200	Weak transcription	Fetal Heart	heart

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