Variant report

Variant	rs72855294
Chromosome Location	chr2:31247236-31247237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11886050	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60562251	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60787090	1.00[EUR][1000 genomes]
rs6706494	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715908	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6716034	1.00[EUR][1000 genomes]
rs6726217	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72855277	1.00[EUR][1000 genomes]
rs72855299	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72856704	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72868752	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72868765	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570233	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7609452	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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31232600-31251000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31235200-31251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:31235400-31251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:31236400-31249400	Weak transcription	NHEK	skin
5	chr2:31246400-31251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:31246400-31261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:31247200-31247400	Enhancers	HSMMtube	muscle

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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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