Variant report

Variant	rs56063940
Chromosome Location	chr12:47819812-47819813
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183959	0.86[AMR][1000 genomes]
rs12298439	0.86[AMR][1000 genomes]
rs12303963	0.90[AMR][1000 genomes]
rs12309455	0.90[AMR][1000 genomes]
rs1919730	0.84[AMR][1000 genomes]
rs2408796	0.90[AMR][1000 genomes]
rs34063041	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34777576	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315206	0.90[AMR][1000 genomes]
rs56140320	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6582713	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7295199	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7303012	0.84[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47802200-47820000	Weak transcription	Aorta	Aorta
2	chr12:47816200-47820000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:47818200-47820600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:47818600-47820000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:47818600-47820600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:47818800-47820000	Enhancers	Hela-S3	cervix
7	chr12:47819000-47820000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:47819600-47820000	Weak transcription	Primary T regulatory cells 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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