Variant report

Variant	rs555597008
Chromosome Location	chr12:117550748-117550749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
2	chr12:117548200-117551800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:117548400-117550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:117550000-117550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:117550000-117551200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:117550000-117551200	Bivalent Enhancer	HepG2	liver
7	chr12:117550000-117551400	Weak transcription	Pancreas	Pancrea
8	chr12:117550000-117552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117550000-117556200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:117550200-117551200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:117550200-117551600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:117550200-117551800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:117550400-117556000	Weak transcription	Fetal Lung	lung
14	chr12:117550400-117556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:117550600-117551600	Weak transcription	Fetal Thymus	thymus
16	chr12:117550600-117558800	Weak transcription	Monocytes-CD14+_RO01746	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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