Variant report

Variant	rs4349939
Chromosome Location	chr7:53687495-53687496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59015475	0.96[AFR][1000 genomes]
rs73696150	0.84[AFR][1000 genomes]
rs73696615	0.84[AFR][1000 genomes]
rs73696616	0.84[AFR][1000 genomes]
rs73696619	0.84[AFR][1000 genomes]
rs73696780	0.85[AFR][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	nsv948546	chr7:53538304-54337148	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1032785	chr7:53660651-53758673	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	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	chr7:53687000-53687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:53687000-53687800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:53687400-53688400	Enhancers	HMEC	breast

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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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