Variant report

Variant	rs56724347
Chromosome Location	chr2:184133865-184133866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10931073	0.93[AFR][1000 genomes]
rs1115266	0.93[AFR][1000 genomes]
rs12465597	0.93[AFR][1000 genomes]
rs12465639	0.93[AFR][1000 genomes]
rs12478212	0.93[AFR][1000 genomes]
rs16824225	0.93[AFR][1000 genomes]
rs17707407	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17707482	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17707626	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707992	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17708224	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17758271	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17758295	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17758560	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17758692	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17758722	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17758734	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17758764	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17758808	0.89[EUR][1000 genomes]
rs2045762	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2045763	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55784122	0.91[AFR][1000 genomes]
rs55825381	0.93[AFR][1000 genomes]
rs56073849	0.93[AFR][1000 genomes]
rs58870754	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7601755	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs997930	0.93[AFR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv583951	chr2:184121475-184142975	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1014807	chr2:184123737-184181052	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184131800-184147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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