Variant report

Variant	rs554964488
Chromosome Location	chr19:56921177-56921178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56914950..56917627-chr19:56917967..56921707,4	K562	blood:
2	chr19:56912448..56916998-chr19:56918724..56922155,5	K562	blood:

Variant related genes	Relation type
ENSG00000198440	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56915800-56924200	ZNF genes & repeats	Fetal Brain Male	brain
2	chr19:56915800-56927000	ZNF genes & repeats	HSMM	muscle
3	chr19:56916000-56938600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:56916400-56926200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:56916400-56927000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:56916400-56929800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:56916400-56936600	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
9	chr19:56916600-56935600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:56916800-56921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:56917000-56926000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:56917000-56927200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:56917000-56931000	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr19:56917000-56931200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:56917000-56937000	ZNF genes & repeats	Fetal Lung	lung
19	chr19:56917000-56938800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:56917000-56940000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:56917200-56929800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr19:56917200-56935800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:56917200-56936600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr19:56917200-56936600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:56917200-56937600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:56917400-56924400	Weak transcription	K562	blood
27	chr19:56917400-56944800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:56917600-56923200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:56917600-56939400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:56917800-56922800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
31	chr19:56918000-56924800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr19:56918000-56925000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:56918200-56921600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:56918200-56926800	ZNF genes & repeats	Dnd41	blood
35	chr19:56918200-56927200	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr19:56918200-56929800	ZNF genes & repeats	Ovary	ovary
37	chr19:56918200-56930200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr19:56918200-56930400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:56918200-56935000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr19:56918200-56936000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr19:56918200-56937600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:56918200-56938400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:56918200-56940000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr19:56918200-56940600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr19:56918200-56943400	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr19:56918400-56921800	Strong transcription	Placenta	Placenta
47	chr19:56918400-56922000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:56918400-56926200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:56918400-56926200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
50	chr19:56918400-56927000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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