Variant report

Variant	rs180853730
Chromosome Location	chr19:44890240-44890241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1062330	chr19:44863939-44938277	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv960889	chr19:44877441-44913480	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv960852	chr19:44890187-44921203	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44886400-44890400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr19:44888200-44893800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
4	chr19:44888400-44890400	Weak transcription	Brain Anterior Caudate	brain
5	chr19:44888400-44891000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:44888600-44890400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:44888600-44893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:44888800-44890400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:44889000-44890400	Weak transcription	Brain Substantia Nigra	brain
10	chr19:44889000-44893800	Weak transcription	Fetal Intestine Large	intestine
11	chr19:44889000-44894000	Weak transcription	Fetal Stomach	stomach
12	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
13	chr19:44889200-44890400	Weak transcription	Pancreas	Pancrea
14	chr19:44889200-44890800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:44889200-44893000	Weak transcription	Fetal Heart	heart
16	chr19:44889200-44896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:44889400-44892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:44889600-44890800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:44889600-44892400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:44889600-44892600	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:44889600-44892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:44889600-44896800	Strong transcription	Fetal Brain Female	brain
23	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:44889800-44890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:44889800-44890400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:44889800-44890600	ZNF genes & repeats	Left Ventricle	heart
28	chr19:44889800-44891000	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr19:44889800-44892400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44889800-44892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:44889800-44893000	Strong transcription	Brain Germinal Matrix	brain
32	chr19:44889800-44893600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
33	chr19:44889800-44894600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr19:44889800-44897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:44889800-44904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:44890000-44891400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr19:44890000-44891800	ZNF genes & repeats	Aorta	Aorta
38	chr19:44890000-44892600	Strong transcription	Fetal Lung	lung
39	chr19:44890000-44892600	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:44890000-44896200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:44890000-44897600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:44890200-44890400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr19:44890200-44894200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:44890200-44894400	Weak transcription	Brain Angular Gyrus	brain
45	chr19:44890200-44904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:44890200-44904800	Weak transcription	HSMMtube	muscle

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