Variant report

Variant	rs4000747
Chromosome Location	chr4:127794497-127794498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10016117	0.82[CHB][hapmap]
rs10446736	0.93[EUR][1000 genomes]
rs11724587	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11724702	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11731527	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11732835	0.93[EUR][1000 genomes]
rs11942125	0.90[EUR][1000 genomes]
rs12498197	0.81[EUR][1000 genomes]
rs12504419	0.87[CEU][hapmap]
rs12511029	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13104202	0.93[EUR][1000 genomes]
rs13114288	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13114331	0.93[EUR][1000 genomes]
rs13115066	0.91[EUR][1000 genomes]
rs13121117	0.93[EUR][1000 genomes]
rs13129761	0.80[EUR][1000 genomes]
rs13131302	0.80[EUR][1000 genomes]
rs13135503	0.93[EUR][1000 genomes]
rs13139253	0.80[EUR][1000 genomes]
rs13141430	0.80[EUR][1000 genomes]
rs13148630	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13148797	0.93[EUR][1000 genomes]
rs13152329	0.90[EUR][1000 genomes]
rs1472702	0.92[EUR][1000 genomes]
rs1503627	0.81[EUR][1000 genomes]
rs1503632	0.93[EUR][1000 genomes]
rs1503634	0.93[EUR][1000 genomes]
rs1510665	0.99[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1604721	0.93[EUR][1000 genomes]
rs1604722	0.93[EUR][1000 genomes]
rs16997944	0.93[EUR][1000 genomes]
rs17011777	0.80[EUR][1000 genomes]
rs17011779	0.80[EUR][1000 genomes]
rs1948826	0.81[EUR][1000 genomes]
rs2102215	0.81[EUR][1000 genomes]
rs2134643	0.80[EUR][1000 genomes]
rs2391097	0.80[EUR][1000 genomes]
rs4397007	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4554089	0.80[EUR][1000 genomes]
rs4599427	0.80[EUR][1000 genomes]
rs4639084	0.93[EUR][1000 genomes]
rs4833357	0.93[EUR][1000 genomes]
rs4834148	0.93[EUR][1000 genomes]
rs4834151	0.80[EUR][1000 genomes]
rs4834152	0.90[EUR][1000 genomes]
rs6822430	0.87[EUR][1000 genomes]
rs7439947	0.93[EUR][1000 genomes]
rs7674389	0.81[EUR][1000 genomes]
rs7677910	0.90[EUR][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	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4000747	PLK4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127794000-127812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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