Variant report

Variant	rs73044348
Chromosome Location	chr3:180075549-180075550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs58400569	1.00[EUR][1000 genomes]
rs6443694	1.00[EUR][1000 genomes]
rs6764578	1.00[EUR][1000 genomes]
rs73033601	1.00[EUR][1000 genomes]
rs73033602	1.00[EUR][1000 genomes]
rs73035604	1.00[EUR][1000 genomes]
rs73044347	0.82[AFR][1000 genomes]
rs73883806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883807	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883809	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883811	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883813	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883814	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883817	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883818	0.94[AMR][1000 genomes]
rs73883841	1.00[EUR][1000 genomes]
rs73883843	1.00[EUR][1000 genomes]
rs73883844	1.00[EUR][1000 genomes]
rs73883846	1.00[EUR][1000 genomes]
rs73883847	1.00[EUR][1000 genomes]
rs7611300	0.92[EUR][1000 genomes]
rs7634347	1.00[EUR][1000 genomes]
rs7653563	1.00[EUR][1000 genomes]
rs7653670	1.00[EUR][1000 genomes]
rs7653759	1.00[EUR][1000 genomes]
rs9817579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9835112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878041	chr3:179983857-180097855	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3415104	chr3:180075481-180075756	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180064800-180075800	Weak transcription	HMEC	breast
2	chr3:180075000-180076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:180075000-180076800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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