Variant report

Variant	rs445752
Chromosome Location	chr19:44460205-44460206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11669713	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11878420	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs438174	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs47775	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
5	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
9	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
15	chr19:44456600-44461600	Weak transcription	NHLF	lung
16	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44456600-44461800	Weak transcription	HepG2	liver
18	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
19	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:44456800-44460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:44456800-44461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
25	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:44457000-44461000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:44457000-44463400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:44457200-44461000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr19:44458000-44460400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr19:44458600-44460400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:44458600-44460400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
32	chr19:44459000-44460400	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr19:44459000-44461200	ZNF genes & repeats	Aorta	Aorta
34	chr19:44459600-44461800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:44459600-44462600	Weak transcription	Colonic Mucosa	Colon
36	chr19:44459600-44464200	Weak transcription	Brain Angular Gyrus	brain
37	chr19:44459800-44461200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:44459800-44461600	Weak transcription	Fetal Intestine Large	intestine
39	chr19:44459800-44461600	Weak transcription	Gastric	stomach
40	chr19:44459800-44462200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:44459800-44462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:44459800-44462400	Weak transcription	Fetal Stomach	stomach
43	chr19:44459800-44463400	Weak transcription	Right Ventricle	heart
44	chr19:44460000-44461400	Weak transcription	Ovary	ovary
45	chr19:44460000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:44460000-44462200	Weak transcription	Fetal Brain Male	brain
47	chr19:44460000-44462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:44460000-44467400	Weak transcription	HSMM	muscle
49	chr19:44460200-44462000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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