Variant report

Variant	esv3396021
Chromosome Location	chr19:52864868-52865206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52861080..52862902-chr19:52863243..52865852,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200785888	chr19:52864873-52864874	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545052846	chr19:52864875-52864876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374988794	chr19:52864876-52864877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575583353	chr19:52864880-52864881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201099640	chr19:52864881-52864882	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369791201	chr19:52864882-52864883	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148849491	chr19:52864893-52864894	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528755453	chr19:52864919-52864920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187534834	chr19:52864993-52864994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11666043	chr19:52865010-52865011	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143518933	chr19:52865023-52865024	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11666131	chr19:52865032-52865033	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148135989	chr19:52865067-52865068	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2247894	chr19:52865072-52865073	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs193037212	chr19:52865098-52865099	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541739820	chr19:52865125-52865126	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566477397	chr19:52865133-52865134	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533804580	chr19:52865145-52865146	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141058638	chr19:52865204-52865205	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52840400-52865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:52848400-52870400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:52849800-52872200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:52856800-52870200	ZNF genes & repeats	Ovary	ovary
7	chr19:52857600-52865200	Strong transcription	Brain Hippocampus Middle	brain
8	chr19:52858400-52866800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:52858800-52871800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:52859600-52865200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:52859600-52866000	Strong transcription	Dnd41	blood
12	chr19:52859600-52868800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:52859800-52865000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:52859800-52866800	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:52859800-52868200	Weak transcription	Right Ventricle	heart
16	chr19:52860600-52865200	Weak transcription	Placenta	Placenta
17	chr19:52861800-52872200	ZNF genes & repeats	Fetal Lung	lung
18	chr19:52862000-52866800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:52862000-52870200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:52862000-52871000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr19:52862000-52871000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:52862000-52871200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:52862600-52865400	ZNF genes & repeats	Left Ventricle	heart
24	chr19:52862600-52871400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:52862800-52865800	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr19:52862800-52870600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr19:52863000-52865200	Weak transcription	Fetal Kidney	kidney
28	chr19:52863000-52865800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:52863000-52868600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:52863200-52865200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:52863200-52866400	Weak transcription	Gastric	stomach
32	chr19:52863400-52867000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:52863600-52865200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:52863600-52865200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:52863600-52866600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:52863600-52866800	Weak transcription	Brain Anterior Caudate	brain
37	chr19:52863600-52867000	Weak transcription	HSMMtube	muscle
38	chr19:52864000-52867800	Weak transcription	Fetal Brain Male	brain
39	chr19:52864200-52865200	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:52864200-52865400	Weak transcription	Psoas Muscle	Psoas
41	chr19:52864200-52865800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:52864200-52866600	Weak transcription	Brain Angular Gyrus	brain
43	chr19:52864200-52866800	Weak transcription	Brain Substantia Nigra	brain
44	chr19:52864200-52866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:52864200-52870600	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr19:52864400-52865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:52864400-52865200	Weak transcription	Adipose Nuclei	Adipose
48	chr19:52864600-52865400	ZNF genes & repeats	Aorta	Aorta
49	chr19:52864600-52866800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:52864600-52866800	ZNF genes & repeats	Lung	lung

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