Variant report

Variant	rs73623117
Chromosome Location	chr19:56967240-56967241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10408272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675306	1.00[AMR][1000 genomes]
rs73621285	1.00[AMR][1000 genomes]
rs73621290	0.84[AFR][1000 genomes]
rs73623114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56957200-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:56957400-56968000	ZNF genes & repeats	Brain Hippocampus Middle	brain
3	chr19:56957400-56974200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:56957400-56976800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56960400-56968400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:56960600-56968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:56960600-56969200	Weak transcription	Thymus	Thymus
11	chr19:56960600-56973800	Weak transcription	HSMM	muscle
12	chr19:56960800-56967600	Weak transcription	HSMMtube	muscle
13	chr19:56960800-56968400	Weak transcription	Pancreas	Pancrea
14	chr19:56961000-56967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:56961000-56967600	Weak transcription	Aorta	Aorta
16	chr19:56961000-56968600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:56961600-56968600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:56963000-56968600	Weak transcription	Dnd41	blood
19	chr19:56963800-56967600	Weak transcription	Fetal Stomach	stomach
20	chr19:56963800-56970800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:56964400-56969000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:56964600-56967600	ZNF genes & repeats	Brain Substantia Nigra	brain
23	chr19:56964600-56967800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:56964600-56970400	ZNF genes & repeats	Fetal Brain Female	brain
25	chr19:56964600-56971200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:56964800-56967600	Weak transcription	Left Ventricle	heart
27	chr19:56964800-56970400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr19:56965000-56972400	Strong transcription	Brain Germinal Matrix	brain
29	chr19:56965200-56968600	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:56965400-56968400	Weak transcription	Fetal Thymus	thymus
31	chr19:56965800-56977400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:56966000-56967800	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr19:56966000-56968200	ZNF genes & repeats	Fetal Lung	lung
34	chr19:56966200-56970400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:56966400-56967800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:56966400-56967800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr19:56966400-56968400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:56966400-56968600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:56966400-56969200	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr19:56966400-56970200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr19:56966400-56973000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr19:56966400-56975200	ZNF genes & repeats	Liver	Liver
43	chr19:56966400-56979800	ZNF genes & repeats	Ovary	ovary
44	chr19:56966600-56967400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:56966600-56967800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr19:56966600-56967800	Weak transcription	Fetal Intestine Large	intestine
47	chr19:56966600-56968800	Weak transcription	Right Ventricle	heart
48	chr19:56966600-56973600	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:56966800-56967600	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr19:56966800-56967800	ZNF genes & repeats	Brain Angular Gyrus	brain

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