Variant report

Variant	rs73030817
Chromosome Location	chr1:159778662-159778663
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13375409	1.00[AMR][1000 genomes]
rs13375938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6666281	1.00[AMR][1000 genomes]
rs6666518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668234	0.96[AFR][1000 genomes]
rs73028940	1.00[AMR][1000 genomes]
rs73028941	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:159772800-159778800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:159774600-159779000	Weak transcription	Spleen	Spleen
3	chr1:159774800-159796000	Weak transcription	Right Atrium	heart
4	chr1:159775400-159779400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:159775800-159793400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:159776800-159784200	Weak transcription	Primary T killer naive cells fromperipheralblood	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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