Variant report

Variant	rs59379206
Chromosome Location	chr5:112708304-112708305
allele	A/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:7)

rs_ID	r²[population]
rs56724932	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58268819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59027034	1.00[AMR][1000 genomes]
rs59433715	1.00[AMR][1000 genomes]
rs59786084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60630105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66629800	0.81[AFR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112706800-112708600	Enhancers	HUVEC	blood vessel
3	chr5:112707400-112708800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112707600-112708600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:112707800-112708600	Enhancers	Fetal Stomach	stomach
6	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:112708000-112709800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112708000-112713800	Weak transcription	HMEC	breast
9	chr5:112708000-112714000	Weak transcription	NHEK	skin
10	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney

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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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