Variant report

Variant	rs7978294
Chromosome Location	chr12:123225865-123225866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57629892	0.87[AMR][1000 genomes]
rs58904977	0.87[AMR][1000 genomes]
rs60201019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61098256	0.87[AMR][1000 genomes]
rs7297797	0.87[AMR][1000 genomes]
rs7302768	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7302908	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7980906	0.87[AMR][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr12:123223200-123227200	Weak transcription	HepG2	liver
2	chr12:123223400-123226800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:123223400-123227400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:123224000-123226800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:123225400-123227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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