Variant report

Variant	rs189003990
Chromosome Location	chr12:30590938-30590939
allele	A/C
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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30589400-30591600	Enhancers	HepG2	liver
2	chr12:30589800-30595000	Enhancers	Fetal Stomach	stomach
3	chr12:30590000-30591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:30590000-30592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:30590000-30592600	Enhancers	Fetal Lung	lung
6	chr12:30590000-30593000	Enhancers	Liver	Liver
7	chr12:30590200-30591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:30590400-30591000	Enhancers	Fetal Kidney	kidney
9	chr12:30590400-30591400	Enhancers	Adipose Nuclei	Adipose
10	chr12:30590400-30592600	Enhancers	Stomach Mucosa	stomach
11	chr12:30590400-30593000	Enhancers	Fetal Brain Male	brain
12	chr12:30590400-30593000	Enhancers	Fetal Brain Female	brain
13	chr12:30590800-30592400	Weak transcription	Pancreas	Pancrea
14	chr12:30590800-30596400	Weak transcription	Right Atrium	heart

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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