Variant report

Variant	rs73119915
Chromosome Location	chr12:40918678-40918679
allele	A/G
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:11)

rs_ID	r²[population]
rs11177109	0.88[AFR][1000 genomes]
rs56778408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58104027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73116213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73117999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9668092	1.00[AFR][1000 genomes];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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3388339	chr12:40917344-40931738	Enhancers Weak transcription	TF binding region lncRNA	13 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	chr12:40915600-40919400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:40918600-40919400	Enhancers	Primary monocytes 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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