Variant report

Variant	rs550323220
Chromosome Location	chr3:69401764-69401765
allele	G/T
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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv520818	chr3:69401248-69421495	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69393400-69402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:69394000-69403000	Weak transcription	HSMM	muscle
4	chr3:69397800-69406000	Weak transcription	HSMMtube	muscle
5	chr3:69400200-69401800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:69400200-69402400	Enhancers	Brain Angular Gyrus	brain
7	chr3:69400200-69403400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:69400200-69405400	Enhancers	Brain Substantia Nigra	brain
9	chr3:69400400-69401800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:69400400-69401800	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:69400400-69401800	Enhancers	Fetal Thymus	thymus
12	chr3:69400400-69402200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:69400400-69403400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:69400400-69403400	Active TSS	Right Atrium	heart
15	chr3:69400400-69403400	Flanking Active TSS	Dnd41	blood
16	chr3:69400600-69402200	Enhancers	Primary B cells from cord blood	blood
17	chr3:69400600-69402800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:69400600-69412800	Weak transcription	Esophagus	oesophagus
19	chr3:69400800-69402600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:69401000-69401800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:69401000-69402000	Weak transcription	Fetal Lung	lung
22	chr3:69401000-69402000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:69401000-69402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:69401000-69403200	Active TSS	Adipose Nuclei	Adipose
25	chr3:69401000-69403800	Weak transcription	NHEK	skin
26	chr3:69401200-69401800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr3:69401200-69402000	Enhancers	Primary T cells from cord blood	blood
28	chr3:69401200-69402600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr3:69401200-69402800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr3:69401200-69403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:69401400-69401800	Active TSS	Primary hematopoietic stem cells	blood
32	chr3:69401400-69402000	Enhancers	Brain Anterior Caudate	brain
33	chr3:69401400-69402200	Weak transcription	Aorta	Aorta
34	chr3:69401400-69403000	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:69401400-69403000	Active TSS	HUVEC	blood vessel
36	chr3:69401600-69402000	Enhancers	Thymus	Thymus
37	chr3:69401600-69402800	Enhancers	Primary T helper cells fromperipheralblood	blood

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