Variant report

Variant	rs73284291
Chromosome Location	chr5:152423389-152423390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57341107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286226	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv600089	chr5:152200109-152488891	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017812	chr5:152220845-152467431	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv537928	chr5:152220845-152467431	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	diseases
6	nsv883050	chr5:152277537-152540026	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949596	chr5:152343943-152548821	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152411000-152423800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:152423000-152423400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:152423000-152424200	Enhancers	HSMM	muscle
4	chr5:152423200-152424600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:152423200-152424800	Enhancers	HMEC	breast
6	chr5:152423200-152424800	Enhancers	NHEK	skin
7	chr5:152423200-152425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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