Variant report

Variant	rs73623114
Chromosome Location	chr19:56962801-56962802
allele	A/G
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]
rs73623117	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56957200-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:56957400-56963000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
3	chr19:56957400-56963000	ZNF genes & repeats	Fetal Brain Male	brain
4	chr19:56957400-56963000	ZNF genes & repeats	Fetal Kidney	kidney
5	chr19:56957400-56963200	ZNF genes & repeats	Fetal Lung	lung
6	chr19:56957400-56964000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:56957400-56964200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr19:56957400-56968000	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:56957400-56974200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:56957400-56976800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:56960400-56963200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:56960400-56968400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:56960600-56968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:56960600-56969200	Weak transcription	Thymus	Thymus
18	chr19:56960600-56973800	Weak transcription	HSMM	muscle
19	chr19:56960800-56967600	Weak transcription	HSMMtube	muscle
20	chr19:56960800-56968400	Weak transcription	Pancreas	Pancrea
21	chr19:56961000-56967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:56961000-56967600	Weak transcription	Aorta	Aorta
23	chr19:56961000-56968600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:56961600-56968600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:56962400-56963000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:56962400-56963200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:56962400-56963800	ZNF genes & repeats	Ovary	ovary
28	chr19:56962600-56963000	Active TSS	Fetal Heart	heart
29	chr19:56962600-56963200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr19:56962600-56963200	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr19:56962600-56963200	ZNF genes & repeats	Brain Angular Gyrus	brain
32	chr19:56962600-56965000	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr19:56962800-56963200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr19:56962800-56963800	ZNF genes & repeats	Fetal Stomach	stomach
35	chr19:56962800-56964800	Weak transcription	Placenta Amnion	Placenta Amnion

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