Variant report

Variant	rs2471723
Chromosome Location	chr4:28560179-28560180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1514124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1514125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1514130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880841	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2203363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2458620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2458623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2471686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2471706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2471724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457793	0.91[AFR][1000 genomes]
rs292020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs292021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2960594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2995112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110744	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3114004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434241	0.91[AFR][1000 genomes]
rs57540276	0.91[AFR][1000 genomes]
rs58079483	0.83[AFR][1000 genomes]
rs59879030	0.91[AFR][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	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2757926	chr4:28543958-28839437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759239	chr4:28543958-28839437	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28556000-28560600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28559200-28561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:28559400-28561000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:28559600-28566600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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