Variant report

Variant	rs348936
Chromosome Location	chr5:112827592-112827593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs171181	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs182987	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2431548	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2434664	0.83[AMR][1000 genomes]
rs2434665	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs348933	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs348949	0.83[AMR][1000 genomes]
rs348950	0.83[AMR][1000 genomes]
rs348953	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs406288	0.82[AMR][1000 genomes]
rs423089	0.83[AMR][1000 genomes]
rs459428	0.81[AMR][1000 genomes]
rs465898	0.81[AMR][1000 genomes]
rs675353	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112825400-112827600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr5:112825600-112828200	Weak transcription	Aorta	Aorta
3	chr5:112826800-112827600	ZNF genes & repeats	Lung	lung
4	chr5:112827000-112827800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:112827200-112828600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112827200-112840400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112827400-112831000	Weak transcription	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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