Variant report

Variant	esv18115
Chromosome Location	chr19:52862709-52864174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52861409..52864151-chr19:52865571..52868442,2	MCF-7	breast:
2	chr19:52861080..52862902-chr19:52863243..52865852,2	K562	blood:
3	chr19:52861080..52862902-chr19:52863243..52865852,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2657938	chr19:52862717-52862718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186378354	chr19:52862861-52862862	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62108276	chr19:52862875-52862876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555029539	chr19:52862878-52862879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190878927	chr19:52862909-52862910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547904807	chr19:52862913-52862914	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376495925	chr19:52862915-52862916	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540788951	chr19:52862924-52862925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373015278	chr19:52862928-52862929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117806700	chr19:52862946-52862947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58120941	chr19:52862948-52862949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545273935	chr19:52862958-52862959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113362335	chr19:52862967-52862968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563617851	chr19:52862997-52862998	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112029641	chr19:52863023-52863024	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1120184	chr19:52863024-52863025	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs539666778	chr19:52863081-52863082	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377231609	chr19:52863129-52863130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529362338	chr19:52863141-52863142	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116326531	chr19:52863142-52863143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559659665	chr19:52863155-52863156	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1120185	chr19:52863195-52863196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147473633	chr19:52863242-52863243	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570055114	chr19:52863251-52863252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2560990	chr19:52863257-52863258	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549525925	chr19:52863264-52863265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2560991	chr19:52863280-52863281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534673914	chr19:52863292-52863293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552794616	chr19:52863293-52863294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573335851	chr19:52863314-52863315	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577707346	chr19:52863359-52863360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538675193	chr19:52863380-52863381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11672072	chr19:52863410-52863411	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566950187	chr19:52863422-52863423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575640861	chr19:52863476-52863477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542968125	chr19:52863487-52863488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561104827	chr19:52863496-52863497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572964731	chr19:52863516-52863517	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79356115	chr19:52863544-52863545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2657939	chr19:52863545-52863546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559442910	chr19:52863607-52863608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76561275	chr19:52863629-52863630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377542890	chr19:52863630-52863631	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370535488	chr19:52863631-52863632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533147654	chr19:52863691-52863692	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546336474	chr19:52863695-52863696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564542449	chr19:52863794-52863795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563364473	chr19:52863805-52863806	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531074185	chr19:52863806-52863807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532017372	chr19:52863810-52863811	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:99 , 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	chr19:52858200-52863200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:52858200-52863200	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:52858200-52863600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:52858400-52866800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:52858800-52871800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:52859400-52863200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:52859600-52865200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:52859600-52866000	Strong transcription	Dnd41	blood
18	chr19:52859600-52868800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:52859800-52865000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:52859800-52866800	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:52859800-52868200	Weak transcription	Right Ventricle	heart
22	chr19:52860200-52862800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:52860200-52862800	Weak transcription	Fetal Brain Male	brain
24	chr19:52860200-52862800	Weak transcription	Gastric	stomach
25	chr19:52860200-52863600	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:52860400-52864400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:52860600-52862800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:52860600-52864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:52860600-52865200	Weak transcription	Placenta	Placenta
30	chr19:52861000-52862800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:52861000-52864200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr19:52861200-52862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:52861200-52863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:52861600-52862800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:52861600-52862800	Weak transcription	Fetal Stomach	stomach
36	chr19:52861600-52864200	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:52861800-52863200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr19:52861800-52863400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr19:52861800-52863600	Strong transcription	Brain Anterior Caudate	brain
40	chr19:52861800-52864400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:52861800-52872200	ZNF genes & repeats	Fetal Lung	lung
42	chr19:52862000-52862800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr19:52862000-52863000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:52862000-52863000	ZNF genes & repeats	Fetal Kidney	kidney
45	chr19:52862000-52863200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr19:52862000-52863600	Strong transcription	HSMMtube	muscle
47	chr19:52862000-52866800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:52862000-52870200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:52862000-52871000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr19:52862000-52871000	ZNF genes & repeats	Fetal Brain Female	brain

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