Variant report

Variant	esv3345354
Chromosome Location	chr19:56935075-56935263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 67 )

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	rs550576809	chr19:56935117-56935118	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367754697	chr19:56935157-56935158	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557560530	chr19:56935167-56935168	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574204477	chr19:56935214-56935215	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536333493	chr19:56935224-56935225	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147472952	chr19:56935228-56935229	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554213700	chr19:56935233-56935234	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201322978	chr19:56935237-56935238	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184762930	chr19:56935241-56935242	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371867207	chr19:56935261-56935262	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563909208	chr19:56935262-56935263	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:98 , 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	chr19:56918200-56936000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:56918200-56937600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:56918200-56938400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:56918200-56940000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr19:56918200-56940600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:56918200-56943400	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr19:56918400-56935200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:56918400-56935600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr19:56918400-56936600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr19:56918400-56938600	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr19:56918400-56942800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:56918400-56945400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr19:56927800-56936400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr19:56928000-56935800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:56928000-56935800	ZNF genes & repeats	Dnd41	blood
32	chr19:56928000-56936000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:56928000-56936000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:56928000-56936200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
35	chr19:56928000-56936600	ZNF genes & repeats	Fetal Kidney	kidney
36	chr19:56928200-56939800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:56928400-56937800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr19:56929200-56936600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
39	chr19:56930800-56935600	ZNF genes & repeats	Ovary	ovary
40	chr19:56930800-56937000	ZNF genes & repeats	HSMM	muscle
41	chr19:56931000-56938000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:56931200-56935800	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr19:56931200-56937600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:56931200-56944400	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr19:56931400-56935800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:56931400-56935800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr19:56931400-56935800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr19:56931400-56936000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr19:56931400-56936400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
50	chr19:56931400-56936600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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