Variant report

Variant	rs4527509
Chromosome Location	chr4:76981946-76981947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4129780	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58591414	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60630277	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61300528	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817952	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6825243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7654534	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4527509	NUP54	cis	Thyroid	GTEx
rs4527509	NUP54	cis	Nerve Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76978000-76982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:76979400-76982200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:76979800-76982400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:76980000-76983200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:76980600-76984200	Enhancers	Primary B cells from cord blood	blood
6	chr4:76980800-76982000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr4:76980800-76982800	Enhancers	Hela-S3	cervix
8	chr4:76981000-76982000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:76981000-76982800	Enhancers	NHEK	skin
10	chr4:76981200-76982000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:76981200-76983000	Enhancers	HMEC	breast
12	chr4:76981400-76982000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:76981600-76984000	Enhancers	Primary B cells from peripheral blood	blood

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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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