Variant report

Variant	esv1237146
Chromosome Location	chr19:41339422-41339424
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	chr19:41168873..41171001-chr19:41337568..41339858,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398041008	chr19:41339423-41339424	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
4	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
5	chr19:41333600-41339800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:41333600-41349400	Weak transcription	Left Ventricle	heart
7	chr19:41334000-41339800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:41336400-41340200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:41336400-41340800	Enhancers	Fetal Intestine Large	intestine
10	chr19:41336600-41340800	Enhancers	Fetal Intestine Small	intestine
11	chr19:41337000-41339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:41337200-41339600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr19:41337200-41340000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:41337200-41340000	Enhancers	Adipose Nuclei	Adipose
15	chr19:41337200-41340000	Enhancers	Liver	Liver
16	chr19:41337200-41340000	Enhancers	Osteobl	bone
17	chr19:41337200-41340200	Enhancers	Placenta	Placenta
18	chr19:41337400-41340200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:41337400-41340200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr19:41337400-41340200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41337600-41340000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:41338400-41339600	Enhancers	Primary T cells from cord blood	blood
23	chr19:41338600-41344000	Weak transcription	A549	lung
24	chr19:41338800-41339800	Weak transcription	HepG2	liver
25	chr19:41338800-41341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:41339000-41339600	Enhancers	Pancreas	Pancrea
27	chr19:41339200-41339600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:41339200-41339600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:41339200-41340000	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:41339200-41340000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:41339200-41340000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr19:41339200-41340000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr19:41339200-41340000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr19:41339200-41340000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:41339200-41340000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:41339200-41340000	Enhancers	Brain Substantia Nigra	brain
37	chr19:41339400-41339800	Active TSS	K562	blood

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