Variant report

Variant	rs72947993
Chromosome Location	chr2:116404995-116404996
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10189544	1.00[AMR][1000 genomes]
rs1026097	1.00[AMR][1000 genomes]
rs1154727	1.00[AMR][1000 genomes]
rs11694627	1.00[AMR][1000 genomes]
rs12373737	1.00[AMR][1000 genomes]
rs12711826	1.00[AMR][1000 genomes]
rs13001120	1.00[AMR][1000 genomes]
rs1550987	1.00[AMR][1000 genomes]
rs1584402	1.00[AMR][1000 genomes]
rs4849405	1.00[AMR][1000 genomes]
rs59033152	1.00[AMR][1000 genomes]
rs72945935	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945949	1.00[AMR][1000 genomes]
rs72945973	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945987	1.00[AMR][1000 genomes]
rs72947986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961549	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	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116400200-116408200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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