Variant report

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13434683	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13435426	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1433222	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1433223	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469717	0.81[ASN][1000 genomes]
rs1854	0.81[ASN][1000 genomes]
rs28374358	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28438519	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3097930	0.81[ASN][1000 genomes]
rs72672815	0.81[ASN][1000 genomes]
rs9991120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3113365	ANKRD50	cis	parietal	SCAN
rs3113365	TNIP3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124812200-124816800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:124813000-124815600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr4:124813600-124815800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:124814800-124815800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:124814800-124815800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:124814800-124816000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:124814800-124816000	Weak transcription	Psoas Muscle	Psoas
8	chr4:124814800-124816200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:124814800-124818000	Weak transcription	Ovary	ovary
10	chr4:124814800-124818400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:124814800-124820600	Weak transcription	Left Ventricle	heart
12	chr4:124815000-124815800	Enhancers	HUVEC	blood vessel
13	chr4:124815000-124816600	Enhancers	Fetal Lung	lung
14	chr4:124815000-124817400	Weak transcription	Fetal Stomach	stomach
15	chr4:124815000-124820600	Weak transcription	Right Atrium	heart
16	chr4:124815200-124817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124815200-124817400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:124815400-124816000	Weak transcription	Placenta	Placenta
19	chr4:124815400-124816200	Weak transcription	Fetal Kidney	kidney
20	chr4:124815400-124817800	Weak transcription	HepG2	liver

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