Variant report

Variant	rs28594797
Chromosome Location	chr2:184457376-184457377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10176584	0.88[AFR][1000 genomes]
rs10183732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28750260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7340208	0.88[AFR][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	nsv1012672	chr2:184363204-184571778	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757843	chr2:184368473-184558908	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759105	chr2:184368473-184558908	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv428729	chr2:184368473-184558908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184457000-184457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:184457000-184457600	Enhancers	NHEK	skin
3	chr2:184457200-184457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:184457200-184457600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:184457200-184457600	Enhancers	HMEC	breast

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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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