Variant report

Variant	rs7299368
Chromosome Location	chr12:117109445-117109446
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:7)

rs_ID	r²[population]
rs58382373	0.82[AMR][1000 genomes]
rs60656302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962169	0.84[AMR][1000 genomes]
rs7962186	1.00[AMR][1000 genomes]
rs7980530	0.84[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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117104200-117110000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:117104800-117113800	Weak transcription	Lung	lung
3	chr12:117107800-117109600	Weak transcription	Fetal Thymus	thymus
4	chr12:117109000-117109600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:117109000-117110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:117109200-117110600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117109200-117110600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:117109400-117109600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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