Variant report

Variant	esv2362506
Chromosome Location	chr19:37716680-37716684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143894549	chr19:37716680-37716681	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375274215	chr19:37716683-37716684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
2	chr19:37710000-37717000	Weak transcription	NH-A	brain
3	chr19:37710000-37717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:37710200-37716800	Weak transcription	Small Intestine	intestine
9	chr19:37710200-37717000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:37710200-37718400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:37710200-37718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:37710200-37718800	Weak transcription	HUVEC	blood vessel
13	chr19:37710200-37718800	Weak transcription	NHLF	lung
14	chr19:37710200-37719000	Weak transcription	HepG2	liver
15	chr19:37710200-37720800	Weak transcription	K562	blood
16	chr19:37710200-37723800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:37710200-37725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:37710200-37725600	Weak transcription	Fetal Heart	heart
19	chr19:37710200-37728600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:37710400-37716800	Weak transcription	Pancreas	Pancrea
21	chr19:37710400-37724200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
23	chr19:37710600-37717000	Weak transcription	Gastric	stomach
24	chr19:37710600-37717200	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:37710600-37718400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:37710600-37718400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:37710600-37725600	Weak transcription	Fetal Brain Male	brain
28	chr19:37711000-37717200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:37711000-37718400	Weak transcription	Right Ventricle	heart
30	chr19:37711000-37737000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:37711000-37737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:37711200-37725000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:37711200-37738200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr19:37711400-37716800	Weak transcription	NHDF-Ad	bronchial
35	chr19:37711400-37717000	Weak transcription	Hela-S3	cervix
36	chr19:37711400-37718400	Weak transcription	Spleen	Spleen
37	chr19:37711600-37719200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:37712200-37719600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:37712600-37716800	Weak transcription	HMEC	breast
40	chr19:37712600-37717800	Weak transcription	Lung	lung
41	chr19:37713000-37717000	Weak transcription	NHEK	skin
42	chr19:37713000-37717400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:37713400-37720000	Strong transcription	Dnd41	blood
44	chr19:37713400-37728400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:37714000-37716800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:37714600-37723400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:37715000-37717200	Weak transcription	Stomach Mucosa	stomach
48	chr19:37715200-37717600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr19:37715200-37720800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:37715200-37724000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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