Variant report

Variant	rs72872252
Chromosome Location	chr3:54748704-54748705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57865832	1.00[AFR][1000 genomes]
rs72870607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870609	1.00[AMR][1000 genomes]
rs72870668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874221	1.00[AMR][1000 genomes]
rs72874223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874234	1.00[AMR][1000 genomes]
rs72874238	1.00[AMR][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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54743800-54751400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:54745200-54750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:54745200-54751600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:54746800-54751600	Weak transcription	Right Atrium	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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