Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:48621142..48624293-chr10:48626876..48630799,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10736371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788713	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452289	0.83[EUR][1000 genomes]
rs1452291	0.82[EUR][1000 genomes]
rs1890776	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2066141	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2100343	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2382746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2382747	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7074717	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7092829	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716709	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718332	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896570	0.83[EUR][1000 genomes]
rs9422323	0.80[EUR][1000 genomes]
rs9422326	0.82[EUR][1000 genomes]
rs9422327	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422348	0.81[EUR][1000 genomes]
rs9422349	0.82[EUR][1000 genomes]
rs9422351	0.87[EUR][1000 genomes]
rs987901	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758218	chr10:48593396-49299273	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2759748	chr10:48593396-49299273	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs930739	MARCH8	cis	parietal	SCAN
rs930739	ZNF22	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:48623200-48629200	Weak transcription	Aorta	Aorta
2	chr10:48625800-48649400	Weak transcription	Thymus	Thymus
3	chr10:48627800-48629000	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:48627800-48636400	Enhancers	Fetal Lung	lung
5	chr10:48628400-48629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:48628600-48629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:48628600-48632800	Enhancers	Fetal Muscle Leg	muscle

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