Variant report

Variant	rs13132567
Chromosome Location	chr4:121639762-121639763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13114248	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17051270	1.00[ASW][hapmap]
rs17347051	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17412912	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2290	1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35273634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35304683	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35912328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4833177	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4833682	1.00[ASW][hapmap]
rs71600497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13132567	PDE5A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121654400	Weak transcription	Left Ventricle	heart
2	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
3	chr4:121625600-121657600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:121626000-121658200	Weak transcription	Aorta	Aorta
5	chr4:121629600-121643400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:121630000-121671400	Weak transcription	Ovary	ovary
7	chr4:121631600-121641200	Weak transcription	Fetal Heart	heart
8	chr4:121631800-121642200	Weak transcription	Fetal Lung	lung
9	chr4:121634000-121642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:121636000-121640200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:121636000-121643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:121637200-121641000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:121639200-121640400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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