Variant report

Variant	rs74141523
Chromosome Location	chr1:216397773-216397774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12084498	1.00[AMR][1000 genomes]
rs12085544	1.00[AMR][1000 genomes]
rs12089549	1.00[AMR][1000 genomes]
rs55703184	1.00[AMR][1000 genomes]
rs55860667	1.00[AMR][1000 genomes]
rs57347173	1.00[AMR][1000 genomes]
rs57453973	1.00[AMR][1000 genomes]
rs58566372	1.00[AMR][1000 genomes]
rs60059978	1.00[AMR][1000 genomes]
rs60911685	1.00[AMR][1000 genomes]
rs61107444	1.00[AMR][1000 genomes]
rs74141504	1.00[AMR][1000 genomes]
rs74141528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141553	1.00[AMR][1000 genomes]
rs74141574	1.00[AMR][1000 genomes]
rs74141577	1.00[AMR][1000 genomes]
rs74141602	1.00[AMR][1000 genomes]
rs74143404	1.00[AMR][1000 genomes]
rs74143933	1.00[AMR][1000 genomes]
rs74143934	1.00[AMR][1000 genomes]
rs74143935	1.00[AMR][1000 genomes]
rs74143936	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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	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	chr1:216395200-216401000	Weak transcription	Left Ventricle	heart
2	chr1:216396600-216398600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:216397000-216399000	Weak transcription	Esophagus	oesophagus
4	chr1:216397400-216398000	Enhancers	Stomach Mucosa	stomach
5	chr1:216397400-216398000	Enhancers	HepG2	liver
6	chr1:216397600-216398000	Enhancers	Muscle Satellite Cultured Cells	--

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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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