Variant report

Variant	esv2750580
Chromosome Location	chr19:52882430-52885223
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	chr19:52881938..52883510-chr19:52886057..52888201,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36229604	chr19:52882476-52882477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147879480	chr19:52882478-52882479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576761981	chr19:52882489-52882490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534826120	chr19:52882506-52882507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2059818	chr19:52882520-52882521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571596008	chr19:52882525-52882526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539327466	chr19:52882635-52882636	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs71304201	chr19:52882662-52882663	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs398040389	chr19:52882668-52882669	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs79741466	chr19:52882669-52882670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7260092	chr19:52882704-52882705	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149775024	chr19:52882705-52882706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371180599	chr19:52882709-52882710	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554879983	chr19:52882720-52882721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572855329	chr19:52882722-52882723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10445583	chr19:52882733-52882734	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs145738308	chr19:52882735-52882736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547541991	chr19:52882765-52882766	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148533394	chr19:52882793-52882794	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180766529	chr19:52882794-52882795	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529962083	chr19:52882804-52882805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10445584	chr19:52882805-52882806	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs10445585	chr19:52882824-52882825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs557673507	chr19:52882858-52882859	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575933001	chr19:52882870-52882871	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528581233	chr19:52882887-52882888	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549126117	chr19:52882888-52882889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571599705	chr19:52882957-52882958	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7248503	chr19:52882993-52882994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539061997	chr19:52883055-52883056	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386810463	chr19:52883123-52883124	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11881530	chr19:52883152-52883153	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35446740	chr19:52883153-52883154	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35328388	chr19:52883155-52883156	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377627703	chr19:52883156-52883157	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145491651	chr19:52883169-52883170	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536954726	chr19:52883187-52883188	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555099113	chr19:52883202-52883203	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573404531	chr19:52883213-52883214	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533877580	chr19:52883240-52883241	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558404146	chr19:52883245-52883246	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576410410	chr19:52883265-52883266	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377752283	chr19:52883295-52883296	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543779603	chr19:52883309-52883310	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540796703	chr19:52883313-52883314	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369534627	chr19:52883400-52883401	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562162405	chr19:52883408-52883409	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147820259	chr19:52883416-52883417	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs572716184	chr19:52883432-52883433	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541801727	chr19:52883438-52883439	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
2	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
4	chr19:52874200-52886200	Weak transcription	HUVEC	blood vessel
5	chr19:52874200-52886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:52875200-52884600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:52875600-52888600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr19:52876000-52884800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
9	chr19:52876200-52883200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr19:52876200-52883200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:52876200-52884800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr19:52876200-52886200	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:52876200-52886600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:52876200-52888400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:52876200-52888800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:52876200-52889000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
20	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
23	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
25	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:52876200-52890800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:52876200-52890800	ZNF genes & repeats	Liver	Liver
28	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:52876400-52883200	Strong transcription	Psoas Muscle	Psoas
35	chr19:52876400-52884000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:52876400-52884200	ZNF genes & repeats	Lung	lung
37	chr19:52876400-52884400	ZNF genes & repeats	Small Intestine	intestine
38	chr19:52876400-52884600	Strong transcription	Dnd41	blood
39	chr19:52876400-52884800	Strong transcription	Brain Hippocampus Middle	brain
40	chr19:52876400-52885600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:52876400-52885800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:52876400-52886800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:52876400-52888000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:52876400-52890600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:52877000-52885600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:52877400-52883600	Strong transcription	Brain Anterior Caudate	brain
48	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr19:52877600-52883000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:52877600-52883600	Strong transcription	Brain Angular Gyrus	brain

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