Variant report

Variant	rs545595594
Chromosome Location	chr12:64936635-64936636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3323260	chr12:64935710-64938558	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3324416	chr12:64936485-64937883	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64927800-64938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:64931400-64944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:64932400-64938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:64936000-64936800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:64936200-64936800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:64936400-64938600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:64936600-64937200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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