Variant report

Variant	rs72865417
Chromosome Location	chr2:30890438-30890439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs6741165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856627	1.00[AMR][1000 genomes]
rs72856629	1.00[AMR][1000 genomes]
rs72856655	1.00[AMR][1000 genomes]
rs72863013	1.00[AMR][1000 genomes]
rs72865407	1.00[AMR][1000 genomes]
rs72865413	0.81[AFR][1000 genomes]
rs72865427	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72865432	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72865442	0.81[AFR][1000 genomes]
rs72865444	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72865447	1.00[AMR][1000 genomes]
rs7563318	1.00[AMR][1000 genomes]
rs7597400	1.00[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr2:30889000-30902200	Weak transcription	Gastric	stomach
2	chr2:30889200-30892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:30889400-30892200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:30889600-30891800	Weak transcription	A549	lung
5	chr2:30890400-30890600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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