Variant report

Variant	rs1484142
Chromosome Location	chr4:80180474-80180475
allele	C/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]
rs17003688	0.89[AFR][1000 genomes]
rs17003689	0.93[AFR][1000 genomes]
rs17003690	0.94[AFR][1000 genomes]
rs56008448	0.88[AFR][1000 genomes]
rs56205707	0.88[AFR][1000 genomes]
rs72870815	0.88[AFR][1000 genomes]
rs72870819	0.88[AFR][1000 genomes]
rs72870833	0.95[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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:80165400-80194000	Weak transcription	Aorta	Aorta
2	chr4:80179200-80180800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:80179200-80180800	Enhancers	Right Ventricle	heart
4	chr4:80179400-80180600	Enhancers	Left Ventricle	heart
5	chr4:80179400-80180800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:80180000-80180800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:80180200-80180800	Enhancers	Pancreas	Pancrea
8	chr4:80180400-80181800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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