Variant report

Variant	rs7312860
Chromosome Location	chr12:44839847-44839848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11182553	1.00[AMR][1000 genomes]
rs11182555	1.00[AMR][1000 genomes]
rs12227198	1.00[AMR][1000 genomes]
rs7133937	1.00[AMR][1000 genomes]
rs7138748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297038	0.83[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44839200-44840000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:44839200-44840000	Enhancers	GM12878-XiMat	blood
3	chr12:44839400-44840000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:44839400-44840600	Enhancers	HepG2	liver
5	chr12:44839600-44840400	Enhancers	hESC Derived CD184+ Endoderm 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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