Variant report

Variant	esv2073754
Chromosome Location	chr19:36830726-36830732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 60 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75308843	chr19:36830726-36830727	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200829117	chr19:36830730-36830731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398101197	chr19:36830731-36830732	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823600-36831400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
3	chr19:36824600-36838000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:36825000-36836600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36826600-36840000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr19:36827000-36831800	Weak transcription	Fetal Stomach	stomach
7	chr19:36827200-36839800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr19:36827200-36840000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:36827200-36841600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:36827400-36833800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr19:36827400-36836800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:36827400-36839800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:36827400-36840000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr19:36827600-36832400	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr19:36828400-36832600	ZNF genes & repeats	A549	lung
19	chr19:36829400-36832200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr19:36829400-36832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr19:36829400-36832800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:36829800-36832600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
23	chr19:36829800-36834000	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr19:36830000-36832400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:36830000-36832400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:36830000-36832400	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr19:36830000-36832400	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr19:36830000-36832400	ZNF genes & repeats	Fetal Kidney	kidney
29	chr19:36830000-36832400	ZNF genes & repeats	Fetal Lung	lung
30	chr19:36830000-36832600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:36830000-36832600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:36830000-36832600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr19:36830000-36832600	ZNF genes & repeats	Dnd41	blood
34	chr19:36830000-36834800	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr19:36830200-36830800	ZNF genes & repeats	Esophagus	oesophagus
36	chr19:36830200-36830800	ZNF genes & repeats	Right Ventricle	heart
37	chr19:36830200-36831400	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr19:36830200-36832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:36830200-36832200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:36830200-36832200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:36830200-36832200	ZNF genes & repeats	Left Ventricle	heart
42	chr19:36830200-36832400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:36830200-36832400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:36830200-36832400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr19:36830200-36832400	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:36830200-36832400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:36830200-36832400	ZNF genes & repeats	Fetal Brain Male	brain
48	chr19:36830200-36832400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr19:36830200-36832400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
50	chr19:36830200-36832600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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