Variant report

Variant	rs56379578
Chromosome Location	chr12:30681443-30681444
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]
rs11832331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906474	0.90[AFR][1000 genomes]
rs16906504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2351743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2351745	0.92[AFR][1000 genomes]
rs35707662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55645273	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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv469192	chr12:30678625-30707035	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv558029	chr12:30678625-30707035	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30672600-30686800	Weak transcription	Ovary	ovary
2	chr12:30681200-30684200	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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