Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:203387148..203390974-chr1:203391933..203396024,4	K562	blood:
2	chr1:203387367..203389730-chr1:203475748..203477870,2	K562	blood:

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

rs_ID	r²[population]
rs10753942	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800930	0.82[EUR][1000 genomes]
rs10920639	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10920640	0.82[EUR][1000 genomes]
rs10920645	0.83[EUR][1000 genomes]
rs10920646	0.80[EUR][1000 genomes]
rs10920648	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10920649	0.82[EUR][1000 genomes]
rs12127756	0.83[EUR][1000 genomes]
rs12129572	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12131687	0.83[EUR][1000 genomes]
rs12565161	0.83[EUR][1000 genomes]
rs1891181	0.82[EUR][1000 genomes]
rs2365601	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3818943	0.82[EUR][1000 genomes]
rs4634967	0.82[EUR][1000 genomes]
rs4638182	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4971206	0.83[EUR][1000 genomes]
rs4971219	0.81[ASN][1000 genomes]
rs4971224	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7549494	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762217	chr1:203378754-203599192	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16851575	TMEM81	cis	parietal	SCAN
rs16851575	NEK7	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:203379000-203392000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:203379000-203394000	Weak transcription	Rectal Mucosa Donor 31	rectum

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