Variant report

Variant	rs549713544
Chromosome Location	chr19:44890631-44890632
allele	C/T
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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44888200-44893800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
3	chr19:44888400-44891000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:44888600-44893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:44889000-44893800	Weak transcription	Fetal Intestine Large	intestine
6	chr19:44889000-44894000	Weak transcription	Fetal Stomach	stomach
7	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
8	chr19:44889200-44890800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:44889200-44893000	Weak transcription	Fetal Heart	heart
10	chr19:44889200-44896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:44889400-44892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:44889600-44890800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:44889600-44892400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:44889600-44892600	Strong transcription	Brain Hippocampus Middle	brain
15	chr19:44889600-44892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:44889600-44896800	Strong transcription	Fetal Brain Female	brain
17	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:44889800-44891000	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:44889800-44892400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44889800-44892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:44889800-44893000	Strong transcription	Brain Germinal Matrix	brain
23	chr19:44889800-44893600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
24	chr19:44889800-44894600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:44889800-44897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:44889800-44904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44890000-44891400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr19:44890000-44891800	ZNF genes & repeats	Aorta	Aorta
29	chr19:44890000-44892600	Strong transcription	Fetal Lung	lung
30	chr19:44890000-44892600	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:44890000-44896200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:44890000-44897600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:44890200-44894200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:44890200-44894400	Weak transcription	Brain Angular Gyrus	brain
35	chr19:44890200-44904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:44890200-44904800	Weak transcription	HSMMtube	muscle
37	chr19:44890400-44891000	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr19:44890400-44891400	ZNF genes & repeats	Pancreas	Pancrea
39	chr19:44890400-44891600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr19:44890400-44891600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr19:44890400-44891800	ZNF genes & repeats	Spleen	Spleen
42	chr19:44890400-44892200	Strong transcription	Brain Anterior Caudate	brain
43	chr19:44890400-44892200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr19:44890400-44892200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:44890400-44892600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:44890400-44895600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:44890400-44896800	ZNF genes & repeats	Ovary	ovary
48	chr19:44890600-44891000	Weak transcription	Psoas Muscle	Psoas
49	chr19:44890600-44892400	ZNF genes & repeats	Liver	Liver
50	chr19:44890600-44892400	Weak transcription	Fetal Intestine Small	intestine

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