Variant report

Variant	rs557590005
Chromosome Location	chr12:4360765-4360766
allele	-/GA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv520791	chr12:4360589-4373928	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4349800-4361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:4352600-4361800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4359200-4363000	Enhancers	Fetal Muscle Leg	muscle
4	chr12:4359400-4360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:4359400-4361200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:4359400-4361600	Enhancers	Fetal Heart	heart
7	chr12:4359600-4361400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:4359800-4360800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:4359800-4360800	Bivalent Enhancer	HSMMtube	muscle
10	chr12:4360000-4360800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:4360000-4361000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:4360200-4360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:4360200-4360800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:4360200-4361200	Enhancers	Primary T cells from cord blood	blood
15	chr12:4360200-4361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:4360200-4361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:4360400-4360800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:4360400-4361200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:4360400-4361200	Weak transcription	Left Ventricle	heart
20	chr12:4360400-4361600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:4360600-4361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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