Variant report

Variant	rs57316311
Chromosome Location	chr12:44840608-44840609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10467198	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182492	0.81[AFR][1000 genomes]
rs11182494	0.81[AFR][1000 genomes]
rs11182503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301186	1.00[AMR][1000 genomes]
rs12304363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308192	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311300	1.00[AMR][1000 genomes]
rs12322750	1.00[AMR][1000 genomes]
rs1493757	1.00[AMR][1000 genomes]
rs56009337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59907388	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60037016	1.00[AMR][1000 genomes]
rs60810059	1.00[AMR][1000 genomes]
rs61334019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085006	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085037	1.00[AMR][1000 genomes]
rs74085043	1.00[AMR][1000 genomes]
rs74085152	1.00[AMR][1000 genomes]
rs74087530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971775	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44840600-44842600	Weak transcription	HepG2	liver
2	chr12:44840600-44848200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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