Variant report

Variant	rs58299218
Chromosome Location	chr2:53088894-53088895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2195654	1.00[AMR][1000 genomes]
rs55848819	1.00[AMR][1000 genomes]
rs56277313	1.00[AMR][1000 genomes]
rs56278531	1.00[AMR][1000 genomes]
rs58877235	1.00[AMR][1000 genomes]
rs59170945	1.00[AMR][1000 genomes]
rs60633548	1.00[AMR][1000 genomes]
rs73931462	1.00[AMR][1000 genomes]
rs73931478	1.00[AMR][1000 genomes]
rs73931492	1.00[AMR][1000 genomes]
rs73931493	1.00[AMR][1000 genomes]
rs73931495	1.00[AMR][1000 genomes]
rs73931705	1.00[AMR][1000 genomes]
rs73931710	1.00[AMR][1000 genomes]
rs73931711	1.00[AMR][1000 genomes]
rs73931712	1.00[AMR][1000 genomes]
rs73931715	1.00[AMR][1000 genomes]
rs73931716	1.00[AMR][1000 genomes]
rs73931718	1.00[AMR][1000 genomes]
rs73933603	1.00[AMR][1000 genomes]
rs73933604	1.00[AMR][1000 genomes]
rs73933606	1.00[AMR][1000 genomes]
rs73933607	1.00[AMR][1000 genomes]
rs73933608	1.00[AMR][1000 genomes]
rs73933675	1.00[AMR][1000 genomes]
rs73933676	1.00[AMR][1000 genomes]
rs73933677	1.00[AMR][1000 genomes]
rs73933678	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3435550	chr2:53069350-53092313	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1010237	chr2:53072736-53116413	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53085800-53090600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:53088600-53090400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:53088800-53089000	Enhancers	A549	lung

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