Variant report

Variant	rs58515283
Chromosome Location	chr1:217145914-217145915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12065974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58711391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59057619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6604650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099418	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74141719	0.90[AFR][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	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217122400-217146200	Weak transcription	Pancreas	Pancrea
2	chr1:217143800-217149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:217144600-217147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:217145800-217146800	Enhancers	Right Ventricle	heart

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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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