Variant report

Variant	rs72999793
Chromosome Location	chr2:134723761-134723762
allele	A/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]
rs13424416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829423	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829792	1.00[EUR][1000 genomes]
rs16829808	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs59601058	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60573351	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745294	1.00[EUR][1000 genomes]
rs6757963	1.00[EUR][1000 genomes]
rs72999768	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999775	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999782	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	1.00[EUR][1000 genomes]
rs73957243	1.00[EUR][1000 genomes]
rs7592843	0.87[AMR][1000 genomes];1.00[EUR][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	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134721400-134726800	Enhancers	Dnd41	blood
2	chr2:134722800-134725600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:134723600-134726200	Weak transcription	Fetal Heart	heart

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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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