Variant report

Variant	rs16997944
Chromosome Location	chr4:127777218-127777219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127771990..127773680-chr4:127776900..127779323,2	K562	blood:
2	chr4:127776912..127778568-chr4:127790220..127791764,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10446736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098902	0.84[EUR][1000 genomes]
rs11724587	1.00[EUR][1000 genomes]
rs11724702	1.00[EUR][1000 genomes]
rs11731527	0.98[EUR][1000 genomes]
rs11732835	1.00[EUR][1000 genomes]
rs11942125	0.96[EUR][1000 genomes]
rs12498197	0.86[EUR][1000 genomes]
rs12503377	0.83[EUR][1000 genomes]
rs12504419	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs12511029	0.95[EUR][1000 genomes]
rs12645687	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12646282	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13104202	1.00[EUR][1000 genomes]
rs13110529	0.85[EUR][1000 genomes]
rs13114288	1.00[EUR][1000 genomes]
rs13114331	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13115066	0.98[EUR][1000 genomes]
rs13121117	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13122470	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13124612	0.83[EUR][1000 genomes]
rs13125496	0.83[EUR][1000 genomes]
rs13129761	0.86[EUR][1000 genomes]
rs13131302	0.86[EUR][1000 genomes]
rs13135503	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs13139253	0.86[EUR][1000 genomes]
rs13141430	0.86[EUR][1000 genomes]
rs13148630	0.93[EUR][1000 genomes]
rs13148797	1.00[EUR][1000 genomes]
rs13149848	0.82[EUR][1000 genomes]
rs13151401	0.83[EUR][1000 genomes]
rs13152329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13152790	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1472702	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503609	0.94[ASN][1000 genomes]
rs1503613	0.94[ASN][1000 genomes]
rs1503627	0.86[EUR][1000 genomes]
rs1503632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1510665	0.86[EUR][1000 genomes]
rs1510669	0.85[EUR][1000 genomes]
rs1510672	0.85[EUR][1000 genomes]
rs1588463	0.84[EUR][1000 genomes]
rs1604721	1.00[EUR][1000 genomes]
rs1604722	1.00[EUR][1000 genomes]
rs17011777	0.86[EUR][1000 genomes]
rs17011779	0.86[EUR][1000 genomes]
rs1877066	0.85[EUR][1000 genomes]
rs1877067	0.85[EUR][1000 genomes]
rs1948826	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2089063	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102215	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134642	0.90[ASN][1000 genomes]
rs2134643	0.86[EUR][1000 genomes]
rs2391097	0.86[EUR][1000 genomes]
rs4000747	0.93[EUR][1000 genomes]
rs4270599	0.85[EUR][1000 genomes]
rs4303993	0.85[EUR][1000 genomes]
rs4365742	0.85[EUR][1000 genomes]
rs4397007	1.00[EUR][1000 genomes]
rs4492022	0.85[EUR][1000 genomes]
rs4554089	0.86[EUR][1000 genomes]
rs4599427	0.86[EUR][1000 genomes]
rs4639084	1.00[EUR][1000 genomes]
rs4833357	1.00[EUR][1000 genomes]
rs4833358	0.85[EUR][1000 genomes]
rs4833360	0.82[EUR][1000 genomes]
rs4834148	1.00[EUR][1000 genomes]
rs4834151	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4834152	0.96[EUR][1000 genomes]
rs4834153	0.83[EUR][1000 genomes]
rs4834154	0.82[EUR][1000 genomes]
rs4834155	0.82[EUR][1000 genomes]
rs4834156	0.82[EUR][1000 genomes]
rs59656578	0.82[ASN][1000 genomes]
rs6815811	0.84[EUR][1000 genomes]
rs6821148	0.83[EUR][1000 genomes]
rs6822430	0.93[EUR][1000 genomes]
rs6831218	0.84[EUR][1000 genomes]
rs6832255	0.83[EUR][1000 genomes]
rs6844304	0.85[EUR][1000 genomes]
rs6848548	0.84[EUR][1000 genomes]
rs6855733	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6856247	0.85[EUR][1000 genomes]
rs7439947	1.00[EUR][1000 genomes]
rs7655752	0.85[EUR][1000 genomes]
rs7656539	0.85[EUR][1000 genomes]
rs7674389	0.86[EUR][1000 genomes]
rs7677910	0.97[EUR][1000 genomes]
rs7678163	0.85[EUR][1000 genomes]
rs7679139	0.85[EUR][1000 genomes]
rs7698395	0.85[EUR][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
rs16997944	PLK4	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127772800-127777800	Weak transcription	NHEK	skin
2	chr4:127772800-127792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:127777200-127777600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links