Variant report

Variant	rs531547167
Chromosome Location	chr12:64952607-64952608
allele	A/G
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	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64944800-64954000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:64951400-64960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:64952400-64953000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:64952400-64955800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:64952600-64952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:64952600-64952800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:64952600-64952800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:64952600-64952800	Enhancers	Lung	lung
9	chr12:64952600-64953000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:64952600-64953000	Enhancers	Left Ventricle	heart
11	chr12:64952600-64953200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:64952600-64953200	Enhancers	NHDF-Ad	bronchial
13	chr12:64952600-64955600	Enhancers	NHLF	lung

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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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