Variant report

Variant	rs60059978
Chromosome Location	chr1:216596924-216596925
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11572782	1.00[AMR][1000 genomes]
rs55703184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57453973	1.00[AMR][1000 genomes]
rs58566372	1.00[AMR][1000 genomes]
rs60911685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141523	1.00[AMR][1000 genomes]
rs74141528	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143411	1.00[AMR][1000 genomes]
rs74143412	1.00[AMR][1000 genomes]
rs74143414	1.00[AMR][1000 genomes]
rs74143415	1.00[AMR][1000 genomes]
rs74143417	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv523863	chr1:216517635-216629416	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216596000-216599000	Weak transcription	Liver	Liver
2	chr1:216596200-216597000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:216596400-216597000	Flanking Active TSS	H9 Derived Neuron 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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