Variant report

Variant	rs1448996
Chromosome Location	chr3:158993239-158993240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158991788..158993700-chr3:158997368..159000280,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11917412	1.00[CEU][hapmap]
rs11917829	0.88[CEU][hapmap]
rs11920486	0.94[CEU][hapmap]
rs12696092	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13059800	0.82[CEU][hapmap]
rs13060178	0.81[CEU][hapmap]
rs13061579	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13061619	1.00[CEU][hapmap]
rs13063797	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13065679	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13066122	0.94[CEU][hapmap]
rs13067585	0.94[EUR][1000 genomes]
rs13070853	0.93[CEU][hapmap]
rs13071140	0.93[CEU][hapmap]
rs13072096	0.83[CEU][hapmap]
rs13075790	1.00[CEU][hapmap]
rs13077258	1.00[CEU][hapmap]
rs13078847	0.83[CEU][hapmap]
rs13079265	0.83[CEU][hapmap]
rs13080892	0.94[CEU][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap]
rs13082502	0.94[EUR][1000 genomes]
rs13083138	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13083244	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13083408	0.83[CEU][hapmap]
rs13083887	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13085008	1.00[CEU][hapmap]
rs13085667	1.00[CEU][hapmap]
rs13085824	0.95[EUR][1000 genomes]
rs13088547	0.94[EUR][1000 genomes]
rs13091349	0.83[CEU][hapmap]
rs13095658	0.93[CEU][hapmap]
rs1449002	0.94[CEU][hapmap]
rs17795417	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1839219	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1906951	1.00[CEU][hapmap]
rs2886480	1.00[CEU][hapmap]
rs34442071	0.94[EUR][1000 genomes]
rs35150496	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4328854	0.83[CEU][hapmap]
rs61795163	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6781001	0.83[CEU][hapmap]
rs6781285	0.94[CEU][hapmap]
rs6784143	1.00[CEU][hapmap]
rs7620377	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs7631740	0.94[CEU][hapmap]
rs7644770	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs870852	0.94[CEU][hapmap]
rs9848338	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9848831	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9968056	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158991200-158995400	Active TSS	Fetal Brain Female	brain
2	chr3:158992000-158998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:158992800-158994200	Active TSS	Brain Angular Gyrus	brain
4	chr3:158993000-158993600	Enhancers	Fetal Brain Male	brain

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