Variant report

Variant	rs28508022
Chromosome Location	chr16:48045595-48045596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48033582..48035268-chr16:48044552..48047021,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12103023	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13330065	1.00[AMR][1000 genomes]
rs13330477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337029	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533708	0.97[AFR][1000 genomes]
rs3887008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3899422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185342	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7190168	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7194254	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7198239	1.00[AMR][1000 genomes]
rs7199647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016242	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016243	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016244	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016251	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74016265	0.94[AFR][1000 genomes]
rs8044501	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050751	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8053889	1.00[AMR][1000 genomes]
rs8055464	0.84[AFR][1000 genomes]
rs8056932	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934257	1.00[AMR][1000 genomes]
rs9935906	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939073	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1798	chr16:48035871-48080541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48038600-48047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:48039200-48045800	Weak transcription	Fetal Brain Female	brain
3	chr16:48039800-48046000	Weak transcription	Fetal Brain Male	brain
4	chr16:48045400-48046400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:48045400-48046800	Enhancers	Primary B cells from peripheral blood	blood

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