Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:53780868..53783785-chr10:53785696..53788310,2	K562	blood:

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

rs_ID	r²[population]
rs10762522	0.83[EUR][1000 genomes]
rs10762541	0.91[ASN][1000 genomes]
rs10823951	0.83[EUR][1000 genomes]
rs10823952	0.83[EUR][1000 genomes]
rs10823954	0.83[EUR][1000 genomes]
rs10823955	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10823959	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11000438	0.83[EUR][1000 genomes]
rs11522442	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12217220	0.83[EUR][1000 genomes]
rs12217231	0.82[EUR][1000 genomes]
rs12219323	0.82[EUR][1000 genomes]
rs12359611	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1903975	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1903976	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1903986	0.83[EUR][1000 genomes]
rs2246585	0.82[EUR][1000 genomes]
rs2447638	0.83[EUR][1000 genomes]
rs2447639	0.83[EUR][1000 genomes]
rs2454535	0.83[EUR][1000 genomes]
rs2454536	0.83[EUR][1000 genomes]
rs7893146	0.83[EUR][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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1040754	chr10:53758289-53845925	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10823978	MBL2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53779000-53790800	Weak transcription	Right Atrium	heart
2	chr10:53780200-53797800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:53781000-53789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:53781000-53792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:53781200-53790200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:53786200-53788200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:53786800-53789000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:53787000-53788200	Enhancers	Colon Smooth Muscle	Colon
9	chr10:53787000-53790800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:53787400-53788200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:53787400-53789200	Weak transcription	NHLF	lung
12	chr10:53787400-53790200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:53787400-53790200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:53787400-53791000	Enhancers	Fetal Lung	lung
15	chr10:53787400-53791400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:53787600-53792400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:53787800-53790000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:53787800-53791000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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