Variant report

Variant	rs57219112
Chromosome Location	chr1:213021687-213021688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs41296720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300031	1.00[AFR][1000 genomes]
rs41307644	0.87[AFR][1000 genomes]
rs56697362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57638446	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58103452	0.93[AFR][1000 genomes]
rs58411510	0.93[AFR][1000 genomes]
rs58860298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59645180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61531628	0.93[AFR][1000 genomes]
rs73075730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079880	0.82[AFR][1000 genomes]
rs73079886	0.82[AFR][1000 genomes]
rs73079887	0.82[AFR][1000 genomes]
rs73079900	0.93[AFR][1000 genomes]
rs73079978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081820	0.93[AFR][1000 genomes]
rs73081821	0.93[AFR][1000 genomes]
rs73081838	0.93[AFR][1000 genomes]
rs73081848	0.93[AFR][1000 genomes]
rs73081859	0.93[AFR][1000 genomes]
rs73081865	0.93[AFR][1000 genomes]
rs73081874	0.93[AFR][1000 genomes]
rs73081896	0.93[AFR][1000 genomes]
rs73083716	0.93[AFR][1000 genomes]
rs73083720	0.93[AFR][1000 genomes]
rs73083723	0.93[AFR][1000 genomes]
rs73083787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]
rs73086317	1.00[AMR][1000 genomes]

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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213021600-213026800	Weak transcription	HepG2	liver

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