Variant report

Variant	esv1784833
Chromosome Location	chr19:37750802-37750804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs35907402	chr19:37750804-37750805	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37743600-37751200	Weak transcription	Left Ventricle	heart
2	chr19:37743600-37751400	Weak transcription	NHDF-Ad	bronchial
3	chr19:37743600-37752800	Weak transcription	Fetal Heart	heart
4	chr19:37743800-37751400	Weak transcription	Fetal Brain Male	brain
5	chr19:37743800-37752200	Weak transcription	Fetal Kidney	kidney
6	chr19:37743800-37758800	Weak transcription	Brain Anterior Caudate	brain
7	chr19:37745600-37758800	Weak transcription	Ovary	ovary
8	chr19:37746800-37752000	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:37746800-37752000	Strong transcription	Osteobl	bone
10	chr19:37746800-37752400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:37747000-37752200	Strong transcription	Fetal Brain Female	brain
12	chr19:37747200-37751600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:37747400-37752000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37747800-37754800	Weak transcription	Brain Angular Gyrus	brain
15	chr19:37748400-37751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:37748400-37751200	Weak transcription	Fetal Muscle Leg	muscle
17	chr19:37748400-37751200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:37748400-37751400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:37748400-37751400	Weak transcription	Gastric	stomach
20	chr19:37748400-37753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:37748400-37755600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:37748400-37759400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:37749000-37753200	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:37749600-37751600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr19:37749800-37751200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:37749800-37751600	Strong transcription	Fetal Stomach	stomach
27	chr19:37749800-37751800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37749800-37753600	Weak transcription	NH-A	brain
29	chr19:37750000-37751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:37750400-37751200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:37750400-37751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:37750400-37751800	Weak transcription	Brain Germinal Matrix	brain
33	chr19:37750600-37751400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
34	chr19:37750800-37751600	ZNF genes & repeats	Fetal Lung	lung

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