Variant report

Variant	rs12987515
Chromosome Location	chr2:178867259-178867260
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10497482	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs12994400	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12994494	0.93[CEU][hapmap]
rs13002118	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13002245	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002444	0.93[CEU][hapmap]
rs13003047	1.00[MKK][hapmap]
rs13004037	1.00[AFR][1000 genomes]
rs13004202	0.93[CEU][hapmap]
rs13006992	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13007409	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13007766	0.81[CEU][hapmap]
rs13010041	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs13012088	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13014074	1.00[AFR][1000 genomes]
rs13014945	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13019139	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13022805	1.00[AFR][1000 genomes]
rs13026166	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13027484	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13030321	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13033904	1.00[AFR][1000 genomes]
rs1435573	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1435574	1.00[CEU][hapmap]
rs17329811	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2886651	1.00[CEU][hapmap]
rs34171827	0.83[EUR][1000 genomes]
rs34261053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34356580	0.83[EUR][1000 genomes]
rs34595897	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34648335	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34699522	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34752624	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34956941	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35068650	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35305315	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35391362	1.00[AFR][1000 genomes]
rs35391652	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35397469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35678669	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35691613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35862134	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35987785	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6746482	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6756606	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs71423514	0.83[EUR][1000 genomes]
rs71423525	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71423542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71423543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71423544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7574975	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7588187	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7588301	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7596644	0.93[CEU][hapmap]
rs7605249	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7605744	0.93[CEU][hapmap]
rs934803	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178863600-178873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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