Variant report

Variant	rs73329948
Chromosome Location	chr12:56018760-56018761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11171618	0.80[AFR][1000 genomes]
rs11171619	0.80[AFR][1000 genomes]
rs12310130	0.85[AFR][1000 genomes]
rs12320702	1.00[EUR][1000 genomes]
rs1896036	1.00[EUR][1000 genomes]
rs58896287	1.00[AMR][1000 genomes]
rs59430466	0.85[AFR][1000 genomes]
rs60252729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327966	1.00[EUR][1000 genomes]
rs73329943	0.81[AFR][1000 genomes]
rs73329946	0.85[AFR][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	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr12:56017000-56018800	Enhancers	GM12878-XiMat	blood
2	chr12:56017000-56026000	Weak transcription	Right Atrium	heart
3	chr12:56018600-56018800	Enhancers	Left Ventricle	heart
4	chr12:56018600-56020200	Enhancers	Primary neutrophils 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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