Variant report

Variant	rs72653702
Chromosome Location	chr4:76999523-76999524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6532173	0.81[ASN][1000 genomes]
rs9307071	0.81[ASN][1000 genomes]
rs9995300	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72653702	NUP54	cis	Nerve Tibial	GTEx
rs72653702	ART3	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76995600-77000800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:76997000-77007200	Weak transcription	Fetal Brain Male	brain
3	chr4:76997000-77008000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76998400-77001000	Enhancers	Fetal Heart	heart
5	chr4:76998800-76999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:76998800-77000000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:76999000-76999600	Enhancers	Liver	Liver
8	chr4:76999000-77008200	Weak transcription	Right Ventricle	heart
9	chr4:76999200-76999800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:76999400-76999600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr4:76999400-77004200	Weak transcription	Psoas Muscle	Psoas

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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