Variant report

Variant	rs73046053
Chromosome Location	chr2:183092643-183092644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs59518934	1.00[AMR][1000 genomes]
rs59695429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040177	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040182	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040184	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040186	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040200	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040201	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043805	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043827	0.95[AFR][1000 genomes]
rs73046055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73046097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047929	1.00[AMR][1000 genomes]
rs73047932	1.00[AMR][1000 genomes]
rs73049877	1.00[AMR][1000 genomes]
rs73049880	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3419904	chr2:183088407-183093505	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
8	esv2433646	chr2:183090074-183092734	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
2	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
4	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:183091400-183093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183092000-183092800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:183092000-183096000	Enhancers	NHDF-Ad	bronchial
8	chr2:183092200-183093800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:183092200-183096000	Enhancers	NHLF	lung
10	chr2:183092400-183096200	Enhancers	Osteobl	bone
11	chr2:183092600-183093200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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