Variant report

Variant	rs12543244
Chromosome Location	chr8:64281417-64281418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12682353	0.85[EUR][1000 genomes]
rs16930419	0.89[EUR][1000 genomes]
rs4737642	0.90[EUR][1000 genomes]
rs57575822	0.83[EUR][1000 genomes]
rs6985171	0.92[EUR][1000 genomes]
rs72661748	0.83[EUR][1000 genomes]
rs72661749	0.84[EUR][1000 genomes]
rs72661776	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72661780	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7463061	0.90[EUR][1000 genomes]
rs7835147	0.83[EUR][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	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64278200-64281800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:64280000-64281600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:64281000-64282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:64281200-64281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:64281400-64282200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:64281400-64282800	Enhancers	HUES48 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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