Variant report

Variant	rs12147527
Chromosome Location	chr14:79494436-79494437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10133874	0.89[EUR][1000 genomes]
rs10135754	0.90[EUR][1000 genomes]
rs10135769	0.90[EUR][1000 genomes]
rs10139452	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10139460	0.82[EUR][1000 genomes]
rs10141996	0.81[AMR][1000 genomes]
rs10142652	0.90[EUR][1000 genomes]
rs10143998	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10146180	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10146527	0.90[EUR][1000 genomes]
rs10146542	0.90[EUR][1000 genomes]
rs10147558	0.80[AMR][1000 genomes]
rs10150011	0.82[EUR][1000 genomes]
rs10151590	0.82[EUR][1000 genomes]
rs11159391	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11159392	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627905	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11627971	0.84[EUR][1000 genomes]
rs11849134	0.89[EUR][1000 genomes]
rs12147468	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432817	0.81[AMR][1000 genomes]
rs12435865	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12436277	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586394	0.81[AMR][1000 genomes]
rs12880287	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882464	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12897265	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1405474	0.84[EUR][1000 genomes]
rs1532728	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1532729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154325	0.89[EUR][1000 genomes]
rs1547533	0.83[EUR][1000 genomes]
rs1566675	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17108558	0.86[EUR][1000 genomes]
rs17108575	0.81[AMR][1000 genomes]
rs1875595	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2062740	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2062741	0.81[AMR][1000 genomes]
rs2062744	0.81[AMR][1000 genomes]
rs2202167	0.90[EUR][1000 genomes]
rs2202168	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2202185	0.88[EUR][1000 genomes]
rs2221297	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2370895	0.90[EUR][1000 genomes]
rs2887887	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs31406	0.83[EUR][1000 genomes]
rs35916059	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903811	0.90[EUR][1000 genomes]
rs4903812	0.90[EUR][1000 genomes]
rs4903813	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4903816	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61639937	0.82[EUR][1000 genomes]
rs6574478	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574480	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7142308	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7142821	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155818	0.82[AMR][1000 genomes]
rs7157779	0.80[AMR][1000 genomes]
rs72687406	0.82[EUR][1000 genomes]
rs8006615	0.82[AMR][1000 genomes]
rs8006983	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007813	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8008393	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8008781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8009329	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009417	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8016232	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8016756	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8017018	0.81[EUR][1000 genomes]
rs8017027	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs872483	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs874316	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs874317	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323669	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9652299	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79485600-79494600	Weak transcription	HUVEC	blood vessel
2	chr14:79493600-79495800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:79493800-79495400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:79493800-79495600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:79493800-79495600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:79494400-79495400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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