Variant report

Variant	esv3318636
Chromosome Location	chr19:53734136-53738639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570910030	chr19:53734176-53734177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113640391	chr19:53734204-53734205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147260471	chr19:53734216-53734217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544248190	chr19:53734309-53734310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112903257	chr19:53734314-53734315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs57104534	chr19:53734323-53734324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs397784367	chr19:53734324-53734325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549747978	chr19:53734388-53734389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529825588	chr19:53734424-53734425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374567277	chr19:53734588-53734589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111321521	chr19:53734604-53734605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542738579	chr19:53734621-53734622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565354103	chr19:53734661-53734662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548259230	chr19:53734743-53734744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539019814	chr19:53734747-53734748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557435264	chr19:53734760-53734761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74984581	chr19:53734782-53734783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139778738	chr19:53734823-53734824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78711991	chr19:53734838-53734839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574960371	chr19:53734845-53734846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117550098	chr19:53734853-53734854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201998763	chr19:53734859-53734860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149930102	chr19:53734904-53734905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs10407257	chr19:53734938-53734939	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4801972	chr19:53734984-53734985	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377179980	chr19:53734990-53734991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564494007	chr19:53734995-53734996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145028598	chr19:53734998-53734999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547014922	chr19:53734999-53735000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149107424	chr19:53735036-53735037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545182986	chr19:53735037-53735038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78355596	chr19:53735045-53735046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112952793	chr19:53735047-53735048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529053442	chr19:53735089-53735090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11305779	chr19:53735104-53735105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544105208	chr19:53735105-53735106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76986208	chr19:53735116-53735117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200413621	chr19:53735118-53735119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62117790	chr19:53735344-53735345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372567173	chr19:53735348-53735349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375842364	chr19:53735354-53735355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs202165340	chr19:53735355-53735356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532446372	chr19:53735356-53735357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200504116	chr19:53735357-53735358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201549694	chr19:53735360-53735361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75154097	chr19:53735361-53735362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs565592767	chr19:53735364-53735365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539056563	chr19:53735365-53735366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538896089	chr19:53735366-53735367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200047720	chr19:53735367-53735368	Weak transcription ZNF genes & repeats	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
2	chr19:53733400-53734600	ZNF genes & repeats	Left Ventricle	heart
3	chr19:53733600-53734800	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr19:53733600-53735200	ZNF genes & repeats	Ovary	ovary
5	chr19:53733600-53736200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:53734200-53735200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:53734200-53735200	ZNF genes & repeats	Aorta	Aorta
10	chr19:53734400-53735000	ZNF genes & repeats	Fetal Lung	lung
11	chr19:53734400-53735400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:53734400-53736600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:53734600-53735000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:53735200-53735800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:53735600-53736000	ZNF genes & repeats	Aorta	Aorta
16	chr19:53735600-53736000	ZNF genes & repeats	Ovary	ovary
17	chr19:53735800-53738000	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:53737400-53737800	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr19:53737400-53737800	ZNF genes & repeats	Pancreas	Pancrea
22	chr19:53737400-53738000	ZNF genes & repeats	Aorta	Aorta
23	chr19:53737400-53738000	ZNF genes & repeats	Fetal Stomach	stomach
24	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:53737600-53738000	ZNF genes & repeats	Fetal Brain Male	brain
26	chr19:53737800-53743000	Weak transcription	Pancreas	Pancrea
27	chr19:53738000-53738800	Weak transcription	Fetal Brain Male	brain
28	chr19:53738000-53743000	Weak transcription	Fetal Stomach	stomach
29	chr19:53738600-53739000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr19:53738600-53740400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:53738600-53749000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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