Variant report

Variant	rs60451444
Chromosome Location	chr3:132912275-132912276
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56761933	1.00[AFR][1000 genomes]
rs56823492	0.97[AFR][1000 genomes]
rs58580906	0.94[AFR][1000 genomes]
rs58829083	1.00[AFR][1000 genomes]
rs59081958	0.94[AFR][1000 genomes]
rs60091507	0.94[AFR][1000 genomes]
rs60933641	1.00[AFR][1000 genomes]
rs61568127	0.88[AFR][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	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132909800-132913600	Weak transcription	Fetal Brain Female	brain
2	chr3:132910800-132912400	Enhancers	NH-A	brain
3	chr3:132911600-132912600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:132911600-132912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:132911600-132917400	Weak transcription	Spleen	Spleen
6	chr3:132911800-132919000	Weak transcription	HSMMtube	muscle
7	chr3:132912000-132912400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:132912000-132912400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:132912000-132919000	Weak transcription	Fetal Lung	lung
10	chr3:132912000-132919200	Weak transcription	Fetal Brain Male	brain

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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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