Variant report

Variant	rs16930419
Chromosome Location	chr8:64307305-64307306
allele	A/G
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]
rs12543244	0.89[EUR][1000 genomes]
rs12682353	0.92[EUR][1000 genomes]
rs4737642	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57575822	0.83[EUR][1000 genomes]
rs6985171	0.85[EUR][1000 genomes]
rs72661748	0.83[EUR][1000 genomes]
rs72661749	0.81[EUR][1000 genomes]
rs72661776	0.90[EUR][1000 genomes]
rs72661780	0.90[EUR][1000 genomes]
rs7463061	0.82[AFR][1000 genomes];0.98[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	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
2	nsv6229	chr8:64282018-64326530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64303000-64308800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:64304400-64309600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:64304800-64307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:64306000-64307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:64306600-64307400	Enhancers	Primary hematopoietic stem cells	blood

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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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