Variant report

Variant	rs11159475
Chromosome Location	chr14:81312152-81312153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10129919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10132871	0.90[JPT][hapmap]
rs10498551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[TSI][hapmap]
rs10498552	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs11159476	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147014	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12147744	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12586162	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12586298	1.00[YRI][hapmap]
rs12586908	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12587068	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12587210	0.85[AMR][1000 genomes]
rs12587246	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12587367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12587373	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12587844	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587883	0.90[JPT][hapmap]
rs12588075	0.80[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12588311	0.82[CHB][hapmap]
rs12588374	0.82[CHB][hapmap]
rs12588758	0.85[AMR][1000 genomes]
rs12588767	1.00[YRI][hapmap]
rs12589266	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs12589927	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12589935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590477	0.91[CHB][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap]
rs12590579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590682	0.85[JPT][hapmap]
rs12590770	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12878621	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880008	0.80[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12882027	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12884630	0.80[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12885049	0.80[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes]
rs12885089	0.87[CHB][hapmap]
rs12885819	0.80[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs12892149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892368	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12896053	0.81[CHB][hapmap]
rs12897928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458992	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470639	0.87[CHB][hapmap];0.87[MEX][hapmap]
rs17094159	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111034	0.82[CHB][hapmap];0.87[MEX][hapmap]
rs17111035	0.82[CHB][hapmap];0.87[MEX][hapmap]
rs17111078	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs17111143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111149	0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17111151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17111165	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17111167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021815	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2077532	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2195101	0.90[GIH][hapmap];0.90[JPT][hapmap]
rs2371414	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2371417	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.85[AMR][1000 genomes]
rs2371461	0.81[JPT][hapmap]
rs2840052	0.86[JPT][hapmap]
rs2888031	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs327433	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs34144142	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34232168	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34264363	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34296139	0.89[AMR][1000 genomes]
rs34465155	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34563443	0.85[AMR][1000 genomes]
rs34611247	0.85[AMR][1000 genomes]
rs34868228	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35380298	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35728625	0.85[AMR][1000 genomes]
rs35765671	0.85[AMR][1000 genomes]
rs3742720	0.90[JPT][hapmap]
rs3861639	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55634365	0.85[AMR][1000 genomes]
rs55859624	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60407794	0.85[AMR][1000 genomes]
rs66586819	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66748940	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71416850	0.87[AMR][1000 genomes]
rs7149702	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11159475	C14orf145	cis	parietal	SCAN
rs11159475	C14orf179	cis	cerebellum	SCAN
rs11159475	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81285200-81315600	Weak transcription	HSMM	muscle
2	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81304800-81314400	Weak transcription	Thymus	Thymus
6	chr14:81305200-81321600	Weak transcription	Fetal Thymus	thymus
7	chr14:81310000-81315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:81310600-81315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:81311200-81312400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:81311400-81316000	Weak transcription	HSMMtube	muscle
11	chr14:81311400-81322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:81311600-81313600	Weak transcription	Dnd41	blood
13	chr14:81311600-81314400	Weak transcription	A549	lung
14	chr14:81311800-81312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:81311800-81312400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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