Variant report

Variant	esv3493749
Chromosome Location	chr19:23320730-23321155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558751464	chr19:23320743-23320744	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150250039	chr19:23320803-23320804	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200235979	chr19:23320804-23320805	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201733528	chr19:23320806-23320807	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188353467	chr19:23320808-23320809	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544541956	chr19:23320811-23320812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11667013	chr19:23320812-23320813	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529672397	chr19:23320824-23320825	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191872159	chr19:23320896-23320897	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536533608	chr19:23321047-23321048	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560259832	chr19:23321064-23321065	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199512162	chr19:23321100-23321101	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200785428	chr19:23321101-23321102	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202064582	chr19:23321103-23321104	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200259602	chr19:23321105-23321106	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368444633	chr19:23321106-23321107	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527407346	chr19:23321136-23321137	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552478161	chr19:23321152-23321153	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23307200-23321200	Weak transcription	NH-A	brain
2	chr19:23307200-23322600	Weak transcription	HSMM	muscle
3	chr19:23311000-23322600	Weak transcription	Fetal Kidney	kidney
4	chr19:23316600-23322600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:23317600-23321200	Weak transcription	Fetal Muscle Leg	muscle
6	chr19:23318000-23323400	Weak transcription	Fetal Thymus	thymus
7	chr19:23318000-23328800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:23318000-23330000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:23318000-23332600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:23318400-23325400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:23318400-23330000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr19:23318600-23325200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:23318600-23328400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:23318600-23328800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:23318600-23328800	ZNF genes & repeats	Dnd41	blood
16	chr19:23318600-23330000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:23318600-23331200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr19:23318600-23333200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:23318800-23323800	Strong transcription	Fetal Lung	lung
20	chr19:23318800-23331000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:23319000-23323600	Weak transcription	Fetal Brain Male	brain
22	chr19:23319200-23321800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:23319400-23321200	Weak transcription	Ovary	ovary
24	chr19:23319400-23321400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:23319400-23322600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:23319400-23323000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr19:23319400-23323200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:23319600-23321200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:23319600-23323200	Weak transcription	NHDF-Ad	bronchial
30	chr19:23319800-23321200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:23319800-23321200	Weak transcription	Fetal Stomach	stomach
32	chr19:23319800-23321600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:23320000-23322400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:23320000-23323200	Weak transcription	Thymus	Thymus
35	chr19:23320400-23321600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr19:23320400-23324400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:23320400-23324800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:23320400-23325400	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr19:23320600-23320800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr19:23320800-23322600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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