Variant report

Variant	esv3318187
Chromosome Location	chr19:52888750-52891428
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	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578203972	chr19:52888783-52888784	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371978669	chr19:52888816-52888817	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56955135	chr19:52888841-52888842	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557593685	chr19:52888869-52888870	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115603968	chr19:52888873-52888874	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542400885	chr19:52888889-52888890	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560937002	chr19:52888916-52888917	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572779806	chr19:52888945-52888946	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141602552	chr19:52888978-52888979	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369722694	chr19:52889013-52889014	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532295660	chr19:52889081-52889082	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550313139	chr19:52889091-52889092	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192886392	chr19:52889097-52889098	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535815888	chr19:52889151-52889152	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183768910	chr19:52889156-52889157	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150822263	chr19:52889165-52889166	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535353738	chr19:52889173-52889174	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373259286	chr19:52889186-52889187	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188154028	chr19:52889204-52889205	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376118195	chr19:52889210-52889211	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547040831	chr19:52889211-52889212	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569112399	chr19:52889216-52889217	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58445916	chr19:52889221-52889222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557581248	chr19:52889235-52889236	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575795736	chr19:52889244-52889245	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4802929	chr19:52889256-52889257	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs554402224	chr19:52889269-52889270	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532220941	chr19:52889292-52889293	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372859725	chr19:52889300-52889301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375613939	chr19:52889318-52889319	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8113594	chr19:52889319-52889320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184565158	chr19:52889320-52889321	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370207250	chr19:52889321-52889322	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576685249	chr19:52889364-52889365	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10674709	chr19:52889431-52889432	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117890521	chr19:52889442-52889443	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147278691	chr19:52889450-52889451	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189011970	chr19:52889511-52889512	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139627697	chr19:52889513-52889514	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181825807	chr19:52889516-52889517	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545095229	chr19:52889521-52889522	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116199606	chr19:52889604-52889605	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373373884	chr19:52889637-52889638	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368158377	chr19:52889669-52889670	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546978926	chr19:52889681-52889682	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7260085	chr19:52889687-52889688	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs532007426	chr19:52889697-52889698	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12985084	chr19:52889715-52889716	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7259863	chr19:52889719-52889720	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs561158349	chr19:52889782-52889783	ZNF genes & repeats Weak transcription Strong 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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52876200-52888800	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr19:52876200-52889000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
6	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
9	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
11	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:52876200-52890800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:52876200-52890800	ZNF genes & repeats	Liver	Liver
14	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:52876400-52890600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr19:52877800-52889800	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr19:52877800-52894200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:52879000-52888800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr19:52879000-52889000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:52879000-52889800	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr19:52879000-52889800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:52879000-52890600	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr19:52879600-52890400	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr19:52880200-52889000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:52880200-52889200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:52880200-52890600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:52880400-52893800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr19:52882000-52890600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr19:52882600-52889000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr19:52882800-52889200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:52883400-52889000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr19:52884000-52889000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr19:52884600-52889000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr19:52884600-52889000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr19:52884600-52889800	ZNF genes & repeats	Dnd41	blood
43	chr19:52885600-52889000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr19:52885600-52889800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:52885800-52888800	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr19:52885800-52889000	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr19:52885800-52889000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr19:52885800-52889000	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr19:52885800-52889000	ZNF genes & repeats	HSMMtube	muscle
50	chr19:52885800-52889000	ZNF genes & repeats	NHDF-Ad	bronchial

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