Variant report

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1580798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4241977	0.87[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	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7674066	SGCB	cis	cerebellum	SCAN
rs7674066	KDR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54711000-54725400	Weak transcription	Psoas Muscle	Psoas
2	chr4:54716800-54727800	Weak transcription	Fetal Heart	heart
3	chr4:54720400-54723000	Enhancers	Fetal Kidney	kidney
4	chr4:54720600-54723000	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:54720600-54723200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:54720600-54723200	Enhancers	Fetal Stomach	stomach
7	chr4:54720600-54723400	Enhancers	Osteobl	bone
8	chr4:54720600-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:54720800-54723200	Enhancers	NHLF	lung
10	chr4:54720800-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:54721000-54723200	Enhancers	NH-A	brain
12	chr4:54721600-54723000	Enhancers	HMEC	breast
13	chr4:54722000-54723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:54722400-54723200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:54722400-54723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:54722600-54723000	Enhancers	Fetal Muscle Leg	muscle
17	chr4:54722600-54723200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:54722600-54723200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:54722600-54723400	Enhancers	Fetal Lung	lung
20	chr4:54722600-54723800	Enhancers	NHDF-Ad	bronchial

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