Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30589442..30591891-chr12:30596596..30598208,2	K562	blood:

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10734788	0.81[ASN][1000 genomes]
rs10771718	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843742	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843752	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050890	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050891	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050908	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12231562	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1506369	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1506391	0.81[EUR][1000 genomes]
rs1588005	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605238	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931337	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10771720	IPO8	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30589400-30591600	Enhancers	HepG2	liver
2	chr12:30589800-30595000	Enhancers	Fetal Stomach	stomach
3	chr12:30590000-30590800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:30590000-30591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:30590000-30592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:30590000-30592600	Enhancers	Fetal Lung	lung
7	chr12:30590000-30593000	Enhancers	Liver	Liver
8	chr12:30590200-30590800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:30590200-30590800	Enhancers	NHDF-Ad	bronchial
10	chr12:30590200-30591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:30590400-30590800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:30590400-30590800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:30590400-30590800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:30590400-30590800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:30590400-30590800	Enhancers	Pancreas	Pancrea
16	chr12:30590400-30590800	Enhancers	Right Atrium	heart
17	chr12:30590400-30591000	Enhancers	Fetal Kidney	kidney
18	chr12:30590400-30591400	Enhancers	Adipose Nuclei	Adipose
19	chr12:30590400-30592600	Enhancers	Stomach Mucosa	stomach
20	chr12:30590400-30593000	Enhancers	Fetal Brain Male	brain
21	chr12:30590400-30593000	Enhancers	Fetal Brain Female	brain

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