Variant report

Variant	rs56704721
Chromosome Location	chr1:221416158-221416159
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489957	0.82[EUR][1000 genomes]
rs11802047	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408324	0.82[EUR][1000 genomes]
rs1592083	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009642	0.85[EUR][1000 genomes]
rs17009643	0.85[EUR][1000 genomes]
rs17009664	1.00[EUR][1000 genomes]
rs35316503	1.00[EUR][1000 genomes]
rs35768495	1.00[EUR][1000 genomes]
rs4846693	1.00[EUR][1000 genomes]
rs4846695	1.00[EUR][1000 genomes]
rs4846696	0.97[EUR][1000 genomes]
rs4846697	1.00[EUR][1000 genomes]
rs4846699	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4846700	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59293137	1.00[EUR][1000 genomes]
rs59638807	1.00[EUR][1000 genomes]
rs6700159	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:221414200-221416200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr1:221415200-221420000	Weak transcription	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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