Variant report

Variant	esv20474
Chromosome Location	chr19:52863563-52864174
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:
2	chr19:52861409..52864151-chr19:52865571..52868442,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559442910	chr19:52863607-52863608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76561275	chr19:52863629-52863630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377542890	chr19:52863630-52863631	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370535488	chr19:52863631-52863632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533147654	chr19:52863691-52863692	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546336474	chr19:52863695-52863696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564542449	chr19:52863794-52863795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563364473	chr19:52863805-52863806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531074185	chr19:52863806-52863807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532017372	chr19:52863810-52863811	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2657940	chr19:52863836-52863837	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567799483	chr19:52863847-52863848	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534951253	chr19:52863862-52863863	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs321938	chr19:52863906-52863907	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs571398474	chr19:52863938-52863939	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547064835	chr19:52863942-52863943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112783171	chr19:52863943-52863944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75983926	chr19:52863947-52863948	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2263901	chr19:52863967-52863968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142897077	chr19:52864001-52864002	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113120053	chr19:52864024-52864025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566119502	chr19:52864026-52864027	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182406417	chr19:52864034-52864035	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551523803	chr19:52864066-52864067	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529426933	chr19:52864076-52864077	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2434418	chr19:52864164-52864165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs554571827	chr19:52864166-52864167	Weak transcription ZNF genes & repeats Strong 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:71 , 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	chr19:52851600-52864200	Strong transcription	Brain Germinal Matrix	brain
7	chr19:52856600-52864200	ZNF genes & repeats	Liver	Liver
8	chr19:52856800-52870200	ZNF genes & repeats	Ovary	ovary
9	chr19:52857600-52865200	Strong transcription	Brain Hippocampus Middle	brain
10	chr19:52858200-52863600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:52858400-52866800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:52858800-52871800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:52859600-52865200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:52859600-52866000	Strong transcription	Dnd41	blood
15	chr19:52859600-52868800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:52859800-52865000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:52859800-52866800	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:52859800-52868200	Weak transcription	Right Ventricle	heart
19	chr19:52860200-52863600	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr19:52860400-52864400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:52860600-52864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:52860600-52865200	Weak transcription	Placenta	Placenta
23	chr19:52861000-52864200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:52861600-52864200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr19:52861800-52863600	Strong transcription	Brain Anterior Caudate	brain
26	chr19:52861800-52864400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:52861800-52872200	ZNF genes & repeats	Fetal Lung	lung
28	chr19:52862000-52863600	Strong transcription	HSMMtube	muscle
29	chr19:52862000-52866800	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr19:52862000-52870200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:52862000-52871000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr19:52862000-52871000	ZNF genes & repeats	Fetal Brain Female	brain
33	chr19:52862000-52871200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:52862200-52863600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr19:52862200-52864200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:52862200-52864200	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr19:52862200-52864400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:52862400-52864200	Strong transcription	Brain Angular Gyrus	brain
39	chr19:52862600-52863600	ZNF genes & repeats	Aorta	Aorta
40	chr19:52862600-52864200	Strong transcription	Brain Substantia Nigra	brain
41	chr19:52862600-52864600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr19:52862600-52865400	ZNF genes & repeats	Left Ventricle	heart
43	chr19:52862600-52871400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:52862800-52863600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:52862800-52863600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:52862800-52863600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr19:52862800-52863600	ZNF genes & repeats	Fetal Stomach	stomach
48	chr19:52862800-52863600	ZNF genes & repeats	Lung	lung
49	chr19:52862800-52864000	Strong transcription	Fetal Brain Male	brain
50	chr19:52862800-52864000	Strong transcription	Psoas Muscle	Psoas

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