Variant report

Variant	rs59471320
Chromosome Location	chr19:56968983-56968984
allele	G/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]
rs59536407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59939853	1.00[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:79 , 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	chr19:56960600-56969200	Weak transcription	Thymus	Thymus
8	chr19:56960600-56973800	Weak transcription	HSMM	muscle
9	chr19:56963800-56970800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:56964400-56969000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:56964600-56970400	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:56964600-56971200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:56964800-56970400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr19:56965000-56972400	Strong transcription	Brain Germinal Matrix	brain
15	chr19:56965800-56977400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:56966200-56970400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:56966400-56969200	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr19:56966400-56970200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
19	chr19:56966400-56973000	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr19:56966400-56975200	ZNF genes & repeats	Liver	Liver
21	chr19:56966400-56979800	ZNF genes & repeats	Ovary	ovary
22	chr19:56966600-56973600	Strong transcription	Fetal Muscle Leg	muscle
23	chr19:56966800-56970600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr19:56967000-56973200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:56967000-56973600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:56967000-56974000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:56967200-56971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:56967200-56974000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
30	chr19:56967400-56969400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:56967400-56974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:56967600-56969800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:56967600-56969800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr19:56967600-56969800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr19:56967600-56970000	Strong transcription	Brain Substantia Nigra	brain
36	chr19:56967600-56970400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr19:56967600-56970400	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:56967600-56971000	ZNF genes & repeats	Left Ventricle	heart
39	chr19:56967600-56971200	ZNF genes & repeats	Aorta	Aorta
40	chr19:56967600-56974000	Strong transcription	Primary T cells from cord blood	blood
41	chr19:56967600-56974000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr19:56967600-56974200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:56967600-56974200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:56967800-56969000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:56967800-56972000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr19:56967800-56972400	Strong transcription	Brain Angular Gyrus	brain
47	chr19:56967800-56973200	Strong transcription	Fetal Intestine Large	intestine
48	chr19:56967800-56973800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:56967800-56974000	Strong transcription	Brain Anterior Caudate	brain
50	chr19:56968000-56969000	Strong transcription	Stomach Smooth Muscle	stomach

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