Variant report

Variant	rs6438100
Chromosome Location	chr3:112450868-112450869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10934181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1249922	0.89[EUR][1000 genomes]
rs1387014	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2633967	0.89[EUR][1000 genomes]
rs35907597	0.89[EUR][1000 genomes]
rs3846044	0.85[AFR][1000 genomes]
rs4682115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682419	0.90[EUR][1000 genomes]
rs6794167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs820538	0.89[EUR][1000 genomes]
rs9821598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837830	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:112449600-112451400	Enhancers	HMEC	breast
2	chr3:112449800-112451200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:112449800-112451400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112450400-112451600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:112450600-112451600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:112450600-112451800	Enhancers	Placenta	Placenta
7	chr3:112450800-112451800	Enhancers	NHEK	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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