Variant report

Variant	rs304583
Chromosome Location	chr5:15442609-15442610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs167350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2402152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304553	0.80[AFR][1000 genomes]
rs304554	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304563	0.85[AFR][1000 genomes]
rs304564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs624793	1.00[AMR][1000 genomes]
rs637977	1.00[AMR][1000 genomes]
rs6554880	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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:15439600-15442800	Enhancers	Fetal Heart	heart
2	chr5:15442600-15443000	Enhancers	Fetal Lung	lung

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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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