Variant report

Variant	rs73143858
Chromosome Location	chr4:54727567-54727568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1391764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1498831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57221039	1.00[AMR][1000 genomes]
rs57537230	1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817034	1.00[AMR][1000 genomes]
rs73817119	1.00[AMR][1000 genomes]
rs73817163	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818152	1.00[AMR][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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54716800-54727800	Weak transcription	Fetal Heart	heart
2	chr4:54723000-54728200	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:54723000-54728400	Weak transcription	HMEC	breast
4	chr4:54723000-54728600	Weak transcription	Fetal Kidney	kidney
5	chr4:54723200-54728200	Weak transcription	NH-A	brain
6	chr4:54723200-54729600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:54723400-54727800	Weak transcription	Osteobl	bone
8	chr4:54723600-54727600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:54727200-54727800	Enhancers	NHDF-Ad	bronchial
10	chr4:54727400-54728800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54727400-54731000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:54727400-54731400	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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