Variant report

Variant	rs543125216
Chromosome Location	chr19:56925605-56925606
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	chr19:56921777..56924252-chr19:56925183..56927455,2	K562	blood:
2	chr19:56907962..56910475-chr19:56925379..56927319,2	K562	blood:

Variant related genes	Relation type
ENSG00000198440	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56915800-56927000	ZNF genes & repeats	HSMM	muscle
2	chr19:56916000-56938600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:56916400-56926200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:56916400-56927000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:56916400-56929800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:56916400-56936600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
8	chr19:56916600-56935600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:56917000-56926000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:56917000-56927200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr19:56917000-56931000	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr19:56917000-56931200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56917000-56937000	ZNF genes & repeats	Fetal Lung	lung
17	chr19:56917000-56938800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:56917000-56940000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:56917200-56929800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:56917200-56935800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:56917200-56936600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr19:56917200-56936600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:56917200-56937600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:56917400-56944800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:56917600-56939400	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:56918200-56926800	ZNF genes & repeats	Dnd41	blood
27	chr19:56918200-56927200	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr19:56918200-56929800	ZNF genes & repeats	Ovary	ovary
29	chr19:56918200-56930200	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:56918200-56930400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:56918200-56935000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr19:56918200-56936000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr19:56918200-56937600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:56918200-56938400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:56918200-56940000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:56918200-56940600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr19:56918200-56943400	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr19:56918400-56926200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr19:56918400-56926200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:56918400-56927000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:56918400-56927000	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr19:56918400-56927000	ZNF genes & repeats	Fetal Kidney	kidney
43	chr19:56918400-56928800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:56918400-56930400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr19:56918400-56931000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:56918400-56935200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:56918400-56935600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr19:56918400-56936600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr19:56918400-56938600	ZNF genes & repeats	Brain Hippocampus Middle	brain
50	chr19:56918400-56942800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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