Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:195723006..195725382-chr1:195733358..195735246,2	K562	blood:
2	chr1:195728301..195731398-chr1:195733712..195736941,3	MCF-7	breast:
3	chr1:195729478..195731927-chr1:195733670..195735429,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10218789	0.85[ASN][1000 genomes]
rs10494730	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10754148	0.87[ASN][1000 genomes]
rs10801446	0.87[ASN][1000 genomes]
rs10801447	0.87[ASN][1000 genomes]
rs10921893	0.86[ASN][1000 genomes]
rs10921895	0.86[ASN][1000 genomes]
rs10921896	0.86[ASN][1000 genomes]
rs10921898	0.87[ASN][1000 genomes]
rs10921899	0.87[ASN][1000 genomes]
rs10921904	0.88[ASN][1000 genomes]
rs10921908	0.87[ASN][1000 genomes]
rs10921913	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029959	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035482	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035852	0.86[ASN][1000 genomes]
rs12085765	0.94[ASN][1000 genomes]
rs1576765	0.87[ASN][1000 genomes]
rs2895786	0.87[ASN][1000 genomes]
rs2942922	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2989977	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2989978	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2989979	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2989980	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3010166	0.86[EUR][1000 genomes]
rs72734161	0.85[ASN][1000 genomes]
rs965614	0.86[ASN][1000 genomes]
rs9970789	0.86[ASN][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	nsv872894	chr1:195053221-195745968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv872932	chr1:195447286-195736070	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2762211	chr1:195734313-195741103	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4010	ANKRD44	trans	cerebellum	SCAN
rs4010	GLRX2	cis	cerebellum	SCAN
rs4010	C1orf53	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195733400-195736000	Weak transcription	A549	lung

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