Variant report

Variant	rs539812512
Chromosome Location	chr18:44773265-44773266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1793532	chr18:44767785-44775293	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
3	esv1850086	chr18:44770317-44774906	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
4	esv1817234	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv1822582	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	esv3328170	chr18:44772504-44776302	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3421246	chr18:44772654-44775452	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3355587	chr18:44772804-44775952	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	esv3408770	chr18:44773179-44775927	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44772600-44774000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:44772600-44774200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr18:44772800-44773800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr18:44772800-44774400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr18:44772800-44774400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr18:44773000-44773600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:44773000-44774000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:44773000-44774000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:44773000-44774400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:44773200-44773400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr18:44773200-44773400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr18:44773200-44773400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr18:44773200-44773400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr18:44773200-44773400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr18:44773200-44773400	Bivalent Enhancer	Left Ventricle	heart
23	chr18:44773200-44773400	Bivalent Enhancer	Small Intestine	intestine
24	chr18:44773200-44773400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr18:44773200-44773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:44773200-44773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:44773200-44773600	Bivalent/Poised TSS	Right Ventricle	heart
28	chr18:44773200-44774200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr18:44773200-44774200	Bivalent Enhancer	Ovary	ovary
30	chr18:44773200-44774400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:44773200-44774400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr18:44773200-44774400	Bivalent Enhancer	Spleen	Spleen
33	chr18:44773200-44774800	Bivalent Enhancer	Lung	lung

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