Variant report

Variant	rs7518472
Chromosome Location	chr1:221409486-221409487
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6671768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692495	1.00[AMR][1000 genomes]
rs6695147	1.00[AMR][1000 genomes]
rs6695361	0.83[AMR][1000 genomes]
rs7524170	1.00[AMR][1000 genomes]
rs7540570	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553855	1.00[AMR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221402400-221410600	Weak transcription	Psoas Muscle	Psoas
2	chr1:221404400-221414400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:221407200-221409800	Enhancers	Fetal Stomach	stomach
4	chr1:221408400-221409600	Enhancers	Colon Smooth Muscle	Colon
5	chr1:221408400-221409800	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:221409200-221409600	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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