Variant report

Variant	rs17639978
Chromosome Location	chr3:28503826-28503827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11706332	0.95[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs11707705	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs11710963	0.93[EUR][1000 genomes]
rs11712484	0.86[CEU][hapmap]
rs11712489	0.90[CEU][hapmap]
rs11720107	0.95[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11918050	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11921692	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs11924173	0.90[EUR][1000 genomes]
rs11926399	0.95[EUR][1000 genomes]
rs13074633	0.96[EUR][1000 genomes]
rs13075840	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs13080155	0.96[EUR][1000 genomes]
rs13081520	0.95[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13081787	0.95[EUR][1000 genomes]
rs13082167	0.95[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs13087143	0.95[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs13087774	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs13088574	0.95[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs13090439	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs13095628	0.95[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1457910	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs1598846	0.95[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap]
rs1606386	0.87[CEU][hapmap]
rs1606388	0.87[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap]
rs17021402	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17357206	0.95[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs17638742	0.87[CEU][hapmap];0.93[GIH][hapmap];0.92[TSI][hapmap]
rs17638991	0.91[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs17695765	0.95[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs17695884	0.91[CEU][hapmap]
rs17696025	0.95[CEU][hapmap];0.95[TSI][hapmap]
rs17696459	0.84[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs17696561	0.98[EUR][1000 genomes]
rs17696783	0.86[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap]
rs35088087	0.91[EUR][1000 genomes]
rs36051688	0.94[EUR][1000 genomes]
rs36105900	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3762797	0.95[CEU][hapmap]
rs4452283	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs58918848	0.90[EUR][1000 genomes]
rs59975750	0.93[EUR][1000 genomes]
rs60043893	0.93[EUR][1000 genomes]
rs62250271	0.95[EUR][1000 genomes]
rs62250272	0.96[EUR][1000 genomes]
rs62250273	0.95[EUR][1000 genomes]
rs62250296	0.94[EUR][1000 genomes]
rs62251134	0.82[EUR][1000 genomes]
rs62251138	0.82[EUR][1000 genomes]
rs62251144	0.91[EUR][1000 genomes]
rs6551255	0.91[EUR][1000 genomes]
rs6771460	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs68085718	0.91[EUR][1000 genomes]
rs7434193	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs7638450	0.94[EUR][1000 genomes]
rs7643191	0.85[CEU][hapmap]
rs952888	0.85[CEU][hapmap]
rs9683360	0.87[EUR][1000 genomes]
rs969443	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv876650	chr3:28427029-28613602	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1015015	chr3:28461972-28728494	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv590010	chr3:28469830-28727214	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28479800-28509000	Weak transcription	Left Ventricle	heart
2	chr3:28503600-28504000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:28503800-28504000	Flanking Active TSS	Fetal Lung	lung

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