Variant report

Variant	rs57718573
Chromosome Location	chr1:194020691-194020692
allele	A/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]
rs16836112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062794	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73064704	1.00[AFR][1000 genomes];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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194010200-194020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:194014400-194020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:194020200-194021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:194020400-194030800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:194020600-194021800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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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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