Variant report

Variant	rs56870791
Chromosome Location	chr19:44401838-44401839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1124737	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976889	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17449078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2191563	0.83[AFR][1000 genomes]
rs57500373	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs59935787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60582855	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61022716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61277064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61528694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6509121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs766959	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8103693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8106317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108832	1.00[AFR][1000 genomes];1.00[AMR][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	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr19:44383000-44405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44397600-44405000	Weak transcription	Fetal Heart	heart
3	chr19:44397600-44405200	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:44397800-44404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:44398600-44403200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:44398800-44403200	ZNF genes & repeats	Liver	Liver
7	chr19:44398800-44405600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:44399200-44405200	Weak transcription	HSMMtube	muscle
9	chr19:44399400-44403200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:44399600-44405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:44399800-44404400	Weak transcription	Brain Germinal Matrix	brain
12	chr19:44400000-44402200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:44400000-44402200	Weak transcription	NHDF-Ad	bronchial
14	chr19:44400200-44402200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:44400200-44402800	Weak transcription	Fetal Kidney	kidney
16	chr19:44400200-44403000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:44400200-44405000	Weak transcription	Osteobl	bone
18	chr19:44400400-44403000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:44400400-44403200	ZNF genes & repeats	Fetal Lung	lung
20	chr19:44400400-44404400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:44400400-44405000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:44400400-44405200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:44400600-44402200	Strong transcription	Left Ventricle	heart
24	chr19:44400600-44405200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:44400800-44402200	ZNF genes & repeats	Ovary	ovary
26	chr19:44400800-44402400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:44400800-44402600	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr19:44400800-44403200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:44401000-44402600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:44401000-44402600	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr19:44401000-44402800	Weak transcription	HSMM	muscle
32	chr19:44401000-44403800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:44401000-44405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:44401200-44402400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:44401200-44404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:44401200-44405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:44401200-44405200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:44401200-44405200	Weak transcription	Pancreas	Pancrea
39	chr19:44401200-44405200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:44401200-44405200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:44401200-44405400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44401400-44405400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:44401600-44402200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
44	chr19:44401600-44402600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr19:44401600-44405200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:44401800-44402000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr19:44401800-44402400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:44401800-44402400	ZNF genes & repeats	Fetal Brain Female	brain
49	chr19:44401800-44402800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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