Variant report

Variant	rs12587844
Chromosome Location	chr14:81332096-81332097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10129919	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132871	0.96[JPT][hapmap]
rs10498550	1.00[YRI][hapmap]
rs10498551	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10498552	0.82[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11159475	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]
rs11159476	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147014	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12147744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12586162	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586298	1.00[YRI][hapmap]
rs12586869	1.00[YRI][hapmap]
rs12586908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12587068	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587210	0.85[AMR][1000 genomes]
rs12587246	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12587367	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587373	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12587883	0.95[JPT][hapmap]
rs12588075	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12588758	0.85[AMR][1000 genomes]
rs12588767	1.00[YRI][hapmap]
rs12589266	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs12589927	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12589935	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];0.94[ASN][1000 genomes]
rs12590477	0.85[JPT][hapmap]
rs12590579	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12590682	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12590770	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12878621	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880008	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12882027	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs12884630	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12885049	0.82[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12885089	0.83[CHB][hapmap]
rs12885819	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12892149	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892368	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs12897928	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458992	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470639	0.82[CHB][hapmap]
rs17094159	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17111078	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs17111143	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111144	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111149	0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17111151	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111165	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17111167	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992972	1.00[YRI][hapmap]
rs2021815	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2077532	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2195101	0.95[JPT][hapmap]
rs2371333	1.00[YRI][hapmap]
rs2371414	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2371417	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs2371461	0.86[JPT][hapmap]
rs2840052	0.82[JPT][hapmap]
rs2888031	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs327433	0.90[JPT][hapmap]
rs34144142	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34232168	0.89[AMR][1000 genomes]
rs34264363	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34296139	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34465155	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34563443	0.85[AMR][1000 genomes]
rs34611247	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34868228	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35380298	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35728625	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35765671	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3742720	0.95[JPT][hapmap]
rs3861639	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55634365	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55859624	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60407794	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66586819	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66748940	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71416850	0.87[AMR][1000 genomes]
rs7149702	0.87[JPT][hapmap]
rs8005643	1.00[YRI][hapmap]
rs936579	1.00[YRI][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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81317800-81333400	Weak transcription	Psoas Muscle	Psoas
4	chr14:81317800-81334400	Weak transcription	A549	lung
5	chr14:81318000-81332800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
7	chr14:81323800-81333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81326200-81333200	Weak transcription	NHEK	skin
9	chr14:81326200-81336400	Weak transcription	NHDF-Ad	bronchial
10	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
11	chr14:81327000-81333800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:81327800-81333400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:81328800-81333000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:81329200-81359400	Weak transcription	HSMM	muscle
15	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:81330800-81334000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:81331200-81332800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:81331400-81333600	Strong transcription	Dnd41	blood
20	chr14:81332000-81332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:81332000-81332800	Strong transcription	Thymus	Thymus

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