Variant report

Variant	rs72839455
Chromosome Location	chr2:125104861-125104862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11680720	0.96[ASN][1000 genomes]
rs11688892	0.96[ASN][1000 genomes]
rs11694014	0.96[ASN][1000 genomes]
rs56405601	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6727936	0.88[AFR][1000 genomes]
rs7567224	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7574198	0.83[EUR][1000 genomes]
rs7582767	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7603847	0.81[EUR][1000 genomes]
rs7609391	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][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	nsv874989	chr2:124892592-125176030	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv523624	chr2:125099924-125112975	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125104800-125105200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:125104800-125105200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:125104800-125105400	Enhancers	HUES6 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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