Variant report

Variant	rs55917079
Chromosome Location	chr12:4522019-4522020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34242303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56153850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56203448	1.00[AFR][1000 genomes]
rs57042528	1.00[AFR][1000 genomes]
rs74061616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061619	1.00[AMR][1000 genomes]
rs74061620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4520200-4524000	Weak transcription	Fetal Brain Male	brain
2	chr12:4520600-4522400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:4520800-4522400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:4521600-4522200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:4521600-4522400	Enhancers	Brain Germinal Matrix	brain
6	chr12:4521600-4524200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:4522000-4523200	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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