Variant report

Variant	rs148302024
Chromosome Location	chr2:54914800-54914801
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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 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	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
2	chr2:54908000-54914800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54908200-54914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:54908800-54921400	Weak transcription	Lung	lung
5	chr2:54911000-54918600	Weak transcription	HepG2	liver
6	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
7	chr2:54911200-54914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54914400-54915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:54914400-54915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:54914800-54915000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:54914800-54915000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:54914800-54915400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:54914800-54915600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:54914800-54916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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