Variant report

Variant	rs72718914
Chromosome Location	chr1:173025852-173025853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11576111	0.89[EUR][1000 genomes]
rs11590691	0.89[EUR][1000 genomes]
rs72718907	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718913	0.95[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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173022000-173027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:173022400-173031000	Weak transcription	HUVEC	blood vessel
3	chr1:173022600-173030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173022800-173026200	Enhancers	NHEK	skin
5	chr1:173024600-173026200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:173025200-173026000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:173025400-173026000	Enhancers	Fetal Lung	lung
8	chr1:173025600-173026000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:173025800-173030800	Weak transcription	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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