Variant report

Variant	rs543960820
Chromosome Location	chr19:56932491-56932492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56922748..56925351-chr19:56930754..56933374,2	K562	blood:

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	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	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	esv1792699	chr19:56931672-56950997	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56916000-56938600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:56916400-56936600	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
4	chr19:56916600-56935600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:56917000-56937000	ZNF genes & repeats	Fetal Lung	lung
9	chr19:56917000-56938800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:56917000-56940000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:56917200-56935800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:56917200-56936600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr19:56917200-56936600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:56917200-56937600	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:56917400-56944800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:56917600-56939400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:56918200-56935000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
18	chr19:56918200-56936000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:56918200-56937600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:56918200-56938400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:56918200-56940000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:56918200-56940600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr19:56918200-56943400	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr19:56918400-56935200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr19:56918400-56935600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:56918400-56936600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr19:56918400-56938600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr19:56918400-56942800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:56918400-56945400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:56926200-56934200	Weak transcription	Fetal Thymus	thymus
31	chr19:56927200-56932800	Weak transcription	Thymus	Thymus
32	chr19:56927600-56932800	Weak transcription	Fetal Stomach	stomach
33	chr19:56927800-56936400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr19:56928000-56935800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:56928000-56935800	ZNF genes & repeats	Dnd41	blood
36	chr19:56928000-56936000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:56928000-56936000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr19:56928000-56936200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr19:56928000-56936600	ZNF genes & repeats	Fetal Kidney	kidney
40	chr19:56928200-56939800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:56928400-56937800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr19:56928800-56932600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:56929200-56936600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr19:56929800-56933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:56930200-56932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:56930800-56935600	ZNF genes & repeats	Ovary	ovary
47	chr19:56930800-56937000	ZNF genes & repeats	HSMM	muscle
48	chr19:56931000-56934600	Strong transcription	Placenta	Placenta
49	chr19:56931000-56934800	Weak transcription	Pancreas	Pancrea
50	chr19:56931000-56938000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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