Variant report

Variant	rs11724702
Chromosome Location	chr4:127781598-127781599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10446736	1.00[EUR][1000 genomes]
rs11098902	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11098905	0.85[AMR][1000 genomes]
rs11721464	0.83[AMR][1000 genomes]
rs11723829	0.81[AMR][1000 genomes]
rs11724587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11731527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11732835	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736547	0.81[AMR][1000 genomes]
rs11942125	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498197	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12503377	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12504419	0.87[CEU][hapmap];0.86[AMR][1000 genomes]
rs12511029	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12512914	0.86[AMR][1000 genomes]
rs12645687	0.81[EUR][1000 genomes]
rs12646282	0.81[EUR][1000 genomes]
rs13101381	0.82[AMR][1000 genomes]
rs13104202	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107479	0.88[AMR][1000 genomes]
rs13110529	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13111315	0.82[AMR][1000 genomes]
rs13114288	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13114331	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13115066	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13121117	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13122470	0.81[EUR][1000 genomes]
rs13124612	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13125496	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13129761	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13131302	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13135503	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13138236	0.82[AMR][1000 genomes]
rs13139253	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13141430	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13141720	0.82[AMR][1000 genomes]
rs13148630	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13148797	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13149848	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13151401	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13152329	0.96[EUR][1000 genomes]
rs13152790	0.81[EUR][1000 genomes]
rs1472702	0.99[EUR][1000 genomes]
rs1503627	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503632	1.00[EUR][1000 genomes]
rs1503634	1.00[EUR][1000 genomes]
rs1510665	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510669	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1510672	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1588463	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1604721	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1604722	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16997944	1.00[EUR][1000 genomes]
rs17011777	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011779	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1877066	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1877067	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1912521	0.84[AMR][1000 genomes]
rs1948826	0.86[EUR][1000 genomes]
rs1995906	0.82[AMR][1000 genomes]
rs2048379	0.88[AMR][1000 genomes]
rs2089063	0.85[EUR][1000 genomes]
rs2102215	0.86[EUR][1000 genomes]
rs2134643	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2391097	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34597806	0.88[AMR][1000 genomes]
rs4000747	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4270599	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4303993	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4365742	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4397007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4492022	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4554089	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4599427	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4639084	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833357	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833358	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4833360	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4833362	0.82[AMR][1000 genomes]
rs4834148	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834151	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4834152	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4834153	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4834154	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4834155	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4834156	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56021645	0.90[AMR][1000 genomes]
rs6815811	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6821148	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822430	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6831218	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6832255	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6844304	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6848070	0.82[AMR][1000 genomes]
rs6848548	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6855733	0.82[EUR][1000 genomes]
rs6856247	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71633717	0.81[AMR][1000 genomes]
rs7439947	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655752	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7656539	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7674389	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7677910	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7678163	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7679139	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7685181	0.80[AMR][1000 genomes]
rs7698395	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9942226	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
rs11724702	PLK4	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127772800-127792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127780200-127781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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