Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21259349..21261938-chr2:21262179..21264854,2	K562	blood:
2	chr2:21247697..21249209-chr2:21263867..21265752,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1469513	0.90[JPT][hapmap]
rs1713223	0.86[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17395512	0.82[JPT][hapmap]
rs588245	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs661665	0.95[ASN][1000 genomes]
rs934197	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:5)

Disease	PMID	Source
Lipid metabolism phenotypes	19936222	GWAS catalog
Cholesterol, total	24097068	GWAS catalog
LDL cholesterol	20686565	GWAS catalog
Cholesterol, total	20686565	GWAS catalog
LDL cholesterol	24097068	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1367117	SF3B14	cis	cerebellum	SCAN
rs1367117	ATAD2B	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
2	chr2:21260400-21266000	Weak transcription	Lung	lung
3	chr2:21261600-21266000	Weak transcription	Left Ventricle	heart
4	chr2:21261600-21266000	Weak transcription	Right Ventricle	heart
5	chr2:21261800-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
6	chr2:21261800-21265800	Transcr. at gene 5' and 3'	Liver	Liver
7	chr2:21262000-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr2:21262000-21266000	Weak transcription	Pancreas	Pancrea
9	chr2:21262200-21264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:21262200-21265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:21262200-21265800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:21262200-21266000	Weak transcription	Gastric	stomach
13	chr2:21262400-21264800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:21262400-21266000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:21263000-21264600	Weak transcription	Ovary	ovary
16	chr2:21263200-21264200	Genic enhancers	Aorta	Aorta
17	chr2:21263400-21266200	Active TSS	Right Atrium	heart
18	chr2:21263600-21264800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:21263600-21267200	Active TSS	Duodenum Mucosa	Duodenum
20	chr2:21263800-21264000	Enhancers	Spleen	Spleen

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