Variant report

Variant	rs56800276
Chromosome Location	chr12:30541883-30541884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10160883	0.83[AMR][1000 genomes]
rs11050813	1.00[AMR][1000 genomes]
rs12302141	0.83[AMR][1000 genomes]
rs12311468	0.83[AMR][1000 genomes]
rs12311583	0.83[AMR][1000 genomes]
rs187121	0.83[AMR][1000 genomes]
rs28852826	1.00[AMR][1000 genomes]
rs354139	0.83[AMR][1000 genomes]
rs58124818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666917	0.83[AMR][1000 genomes]
rs74081272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965161	1.00[AMR][1000 genomes]
rs7973419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv32665	chr12:30541494-30549192	Enhancers Weak transcription ZNF genes & repeats	n/a	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	chr12:30541600-30542400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:30541800-30542600	Weak transcription	Liver	Liver

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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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