Variant report

Variant	rs547250928
Chromosome Location	chr3:69375981-69375982
allele	C/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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69366400-69376200	Enhancers	Brain Anterior Caudate	brain
3	chr3:69366800-69378200	Enhancers	Brain Hippocampus Middle	brain
4	chr3:69367200-69378400	Enhancers	Brain Substantia Nigra	brain
5	chr3:69368400-69378200	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:69369000-69377600	Weak transcription	Fetal Brain Female	brain
7	chr3:69369800-69376600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:69370200-69384000	Weak transcription	Left Ventricle	heart
9	chr3:69370400-69376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:69370400-69379200	Weak transcription	Spleen	Spleen
11	chr3:69371000-69377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:69371400-69377000	Weak transcription	Fetal Stomach	stomach
13	chr3:69371800-69380000	Weak transcription	Fetal Heart	heart
14	chr3:69372200-69377400	Weak transcription	Ovary	ovary
15	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:69372400-69377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:69372400-69380000	Weak transcription	NHEK	skin
18	chr3:69373000-69376000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:69373400-69376200	Enhancers	Fetal Thymus	thymus
20	chr3:69373600-69377400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:69373600-69378400	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:69373800-69380400	Weak transcription	Placenta	Placenta
23	chr3:69374200-69376200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:69374400-69376000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:69374400-69376600	Enhancers	Adipose Nuclei	Adipose
26	chr3:69374600-69380400	Weak transcription	Lung	lung
27	chr3:69374600-69383200	Weak transcription	Right Atrium	heart
28	chr3:69374800-69376400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:69374800-69388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:69375000-69378000	Weak transcription	Right Ventricle	heart
31	chr3:69375000-69380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:69375000-69384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:69375400-69376000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:69375400-69376200	Enhancers	Primary T cells from cord blood	blood
35	chr3:69375400-69376600	Flanking Active TSS	GM12878-XiMat	blood
36	chr3:69375400-69376800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:69375400-69377800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr3:69375400-69378400	Flanking Active TSS	Dnd41	blood
39	chr3:69375600-69376000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:69375600-69376000	Enhancers	HSMM	muscle
41	chr3:69375600-69376400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:69375600-69376400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:69375600-69376600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:69375600-69377600	Enhancers	Fetal Lung	lung
45	chr3:69375600-69378000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:69375600-69378200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:69375600-69378200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:69375600-69378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:69375600-69378400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:69375800-69376000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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