Variant report

Variant	rs17006546
Chromosome Location	chr4:120755989-120755990
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10032434	0.90[ASN][1000 genomes]
rs13149010	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17006113	0.92[ASN][1000 genomes]
rs17006665	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2202273	0.90[ASN][1000 genomes]
rs2304799	0.92[ASN][1000 genomes]
rs28429734	0.84[ASN][1000 genomes]
rs35920721	0.90[ASN][1000 genomes]
rs4505807	0.90[ASN][1000 genomes]
rs62319694	0.90[ASN][1000 genomes]
rs6819871	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs72908412	0.92[ASN][1000 genomes]
rs72910489	0.90[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17006546	PDE5A	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120753800-120757400	Enhancers	NHDF-Ad	bronchial
2	chr4:120754000-120757000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:120754600-120756800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:120755000-120756000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:120755200-120756600	Weak transcription	Osteobl	bone
6	chr4:120755400-120756800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:120755600-120756400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:120755800-120756400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:120755800-120756400	Enhancers	Fetal Stomach	stomach

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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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