Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1323554	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17072194	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17072196	1.00[EUR][1000 genomes]
rs56797165	1.00[AMR][1000 genomes]
rs57032491	1.00[AMR][1000 genomes]
rs58142652	1.00[AMR][1000 genomes]
rs59725117	1.00[AMR][1000 genomes]
rs60078151	1.00[EUR][1000 genomes]
rs7323683	1.00[EUR][1000 genomes]
rs73480204	1.00[AMR][1000 genomes]
rs73480220	1.00[AMR][1000 genomes]
rs73480223	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480233	1.00[AMR][1000 genomes]
rs73480245	1.00[AMR][1000 genomes]
rs73480249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480253	1.00[AMR][1000 genomes]
rs73480258	1.00[AMR][1000 genomes]
rs73482287	1.00[AMR][1000 genomes]
rs73482293	1.00[AMR][1000 genomes]
rs73482300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482301	1.00[AMR][1000 genomes]
rs73484304	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484316	1.00[AMR][1000 genomes]
rs7987892	1.00[EUR][1000 genomes]
rs7989755	1.00[EUR][1000 genomes]
rs7994259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49357400-49365200	Weak transcription	NH-A	brain
2	chr13:49358200-49365200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:49358200-49365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:49358200-49365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:49358400-49361600	Enhancers	Hela-S3	cervix
6	chr13:49358400-49364400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:49358400-49365200	Weak transcription	NHLF	lung
8	chr13:49358600-49365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:49359200-49364400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:49360000-49362600	Enhancers	Placenta	Placenta
11	chr13:49360600-49361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:49360800-49365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:49361400-49361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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