Variant report

Variant	rs62280319
Chromosome Location	chr3:132889945-132889946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10460836	0.86[ASN][1000 genomes]
rs12054037	0.93[ASN][1000 genomes]
rs12493846	0.92[ASN][1000 genomes]
rs1450048	0.85[ASN][1000 genomes]
rs1965220	0.85[ASN][1000 genomes]
rs28731476	0.85[ASN][1000 genomes]
rs4373064	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4854573	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4854699	0.91[ASN][1000 genomes]
rs62280318	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280320	0.96[ASN][1000 genomes]
rs62280327	0.93[ASN][1000 genomes]
rs62280329	0.85[ASN][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132881400-132892000	Weak transcription	Fetal Lung	lung
2	chr3:132884600-132893800	Weak transcription	HSMM	muscle
3	chr3:132886200-132890600	Enhancers	Brain Germinal Matrix	brain
4	chr3:132886200-132891600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:132886400-132890000	Enhancers	Fetal Brain Male	brain
6	chr3:132886800-132891800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:132886800-132892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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