Variant report

Variant	rs447507
Chromosome Location	chr4:127551274-127551275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1397671	0.94[ASN][1000 genomes]
rs1511140	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs167505	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17011330	0.80[ASN][1000 genomes]
rs17011332	0.94[ASN][1000 genomes]
rs17011337	0.94[ASN][1000 genomes]
rs17011348	0.82[ASN][1000 genomes]
rs313099	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs434002	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4833351	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57594926	0.97[ASN][1000 genomes]
rs59251644	0.86[ASN][1000 genomes]
rs72921457	0.94[ASN][1000 genomes]
rs72921459	0.94[ASN][1000 genomes]
rs72921462	0.94[ASN][1000 genomes]
rs72921473	0.86[ASN][1000 genomes]
rs72921474	0.86[ASN][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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs447507	PLK4	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127549000-127551600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:127549000-127553000	Weak transcription	K562	blood
3	chr4:127551200-127551400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:127551200-127551400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:127551200-127551400	Enhancers	Fetal Stomach	stomach
6	chr4:127551200-127551600	Enhancers	Fetal Heart	heart
7	chr4:127551200-127551600	Active TSS	NHDF-Ad	bronchial
8	chr4:127551200-127551800	Enhancers	Colon Smooth Muscle	Colon

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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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