Variant report

Variant	rs59939853
Chromosome Location	chr19:56972673-56972674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56194105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56197597	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56239451	0.90[AFR][1000 genomes]
rs56256568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56338417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58943190	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59471320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59536407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60217196	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61052865	0.90[AFR][1000 genomes]
rs73934924	0.85[AFR][1000 genomes]
rs73934926	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:77 , 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	chr19:56957400-56974200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr19:56957400-56976800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:56960600-56973800	Weak transcription	HSMM	muscle
8	chr19:56965800-56977400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:56966400-56973000	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr19:56966400-56975200	ZNF genes & repeats	Liver	Liver
11	chr19:56966400-56979800	ZNF genes & repeats	Ovary	ovary
12	chr19:56966600-56973600	Strong transcription	Fetal Muscle Leg	muscle
13	chr19:56967000-56973200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:56967000-56973600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:56967000-56974000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr19:56967200-56974000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
18	chr19:56967400-56974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:56967600-56974000	Strong transcription	Primary T cells from cord blood	blood
20	chr19:56967600-56974000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr19:56967600-56974200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:56967600-56974200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:56967800-56973200	Strong transcription	Fetal Intestine Large	intestine
24	chr19:56967800-56973800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:56967800-56974000	Strong transcription	Brain Anterior Caudate	brain
26	chr19:56968000-56973000	Weak transcription	NHDF-Ad	bronchial
27	chr19:56968000-56974200	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:56968400-56974200	ZNF genes & repeats	Lung	lung
29	chr19:56968600-56973400	Strong transcription	Dnd41	blood
30	chr19:56968600-56974200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:56968800-56973000	Strong transcription	Fetal Brain Male	brain
32	chr19:56969200-56973200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:56969200-56973400	Weak transcription	Fetal Thymus	thymus
34	chr19:56969400-56987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:56969600-56975600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:56969800-56973200	Strong transcription	HSMMtube	muscle
37	chr19:56969800-56973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:56970000-56975800	ZNF genes & repeats	Fetal Stomach	stomach
39	chr19:56970200-56972800	Strong transcription	Fetal Lung	lung
40	chr19:56970200-56972800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:56970200-56973000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:56970200-56981400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:56970400-56972800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:56970400-56973000	Strong transcription	Fetal Brain Female	brain
45	chr19:56970400-56974200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:56970800-56972800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:56970800-56973800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:56971000-56974000	Strong transcription	Right Ventricle	heart
49	chr19:56971200-56972800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:56971400-56973000	Strong transcription	H1 Cell Line	embryonic stem cell

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