Variant report

Variant	rs80218432
Chromosome Location	chr19:21249787-21249788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong 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	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:21240800-21250000	Weak transcription	Fetal Thymus	thymus
7	chr19:21240800-21256800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:21241000-21264800	Weak transcription	Gastric	stomach
9	chr19:21241200-21251000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21241200-21251000	Weak transcription	NH-A	brain
11	chr19:21241200-21264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:21241400-21251000	Weak transcription	Fetal Kidney	kidney
13	chr19:21241400-21251800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:21241400-21252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:21241400-21253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:21241400-21264800	Weak transcription	HSMMtube	muscle
17	chr19:21241600-21264800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:21241600-21265000	Weak transcription	HMEC	breast
19	chr19:21243000-21252200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:21245200-21250800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21245400-21250000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:21245600-21252000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:21245800-21253400	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:21246600-21250600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr19:21246800-21249800	ZNF genes & repeats	Dnd41	blood
26	chr19:21246800-21250200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:21246800-21251400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:21247000-21250400	Weak transcription	NHDF-Ad	bronchial
29	chr19:21247000-21251000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:21247200-21264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:21247400-21249800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:21247400-21260000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:21247400-21264800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
35	chr19:21247600-21252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:21247600-21264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:21247600-21264800	Weak transcription	Ovary	ovary
38	chr19:21247800-21250000	Strong transcription	Adipose Nuclei	Adipose
39	chr19:21247800-21250800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr19:21247800-21264800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:21247800-21264800	Weak transcription	HSMM	muscle
42	chr19:21248400-21249800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:21248400-21250000	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:21248400-21250000	Weak transcription	NHEK	skin
45	chr19:21248400-21250600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:21248400-21251200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr19:21248400-21251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:21248400-21251600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:21248400-21252600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:21248400-21256800	Weak transcription	Osteobl	bone

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