Variant report

Variant	rs28401511
Chromosome Location	chr12:47734879-47734880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12296974	1.00[AMR][1000 genomes]
rs12298269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302118	1.00[AMR][1000 genomes]
rs12302684	1.00[AMR][1000 genomes]
rs12306302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312754	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321759	1.00[AMR][1000 genomes]
rs28483157	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv983319	chr12:47734799-47738693	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47732400-47735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:47734200-47735000	Enhancers	Fetal Lung	lung
4	chr12:47734600-47737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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