Variant report

Variant	rs12923732
Chromosome Location	chr16:80049502-80049503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80036287..80041295-chr16:80046094..80052714,5	K562	blood:
2	chr16:80049338..80051609-chr16:80053857..80056370,2	MCF-7	breast:
3	chr16:80048792..80050777-chr16:80060648..80062252,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11645608	0.87[EUR][1000 genomes]
rs11645885	0.87[EUR][1000 genomes]
rs11646780	0.88[EUR][1000 genomes]
rs11647839	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12149105	0.85[EUR][1000 genomes]
rs12149738	0.86[EUR][1000 genomes]
rs12921341	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12923727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12930889	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28425168	0.85[EUR][1000 genomes]
rs35244260	0.91[EUR][1000 genomes]
rs3924082	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3936188	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4073088	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073089	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4076249	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076250	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076251	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4341754	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4381616	0.92[EUR][1000 genomes]
rs4426358	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4439776	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4445914	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4485384	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4490014	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4493049	0.95[AFR][1000 genomes]
rs4505341	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4611478	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4888064	0.87[EUR][1000 genomes]
rs6564723	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8053769	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8057036	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8063712	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921198	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9923757	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9923939	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923943	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924079	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9924359	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9924378	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926410	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9927433	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929759	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929923	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9930005	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9931548	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932265	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932617	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9934311	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9935292	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9936732	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv520894	chr16:80042806-80050270	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80040400-80057200	Weak transcription	Esophagus	oesophagus
2	chr16:80047800-80049800	Enhancers	HMEC	breast
3	chr16:80049000-80049800	Enhancers	HSMMtube	muscle
4	chr16:80049000-80050000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:80049200-80049800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:80049400-80049800	Enhancers	Fetal Stomach	stomach

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