Variant report

Variant	esv3387080
Chromosome Location	chr19:38661856-38662371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574250870	chr19:38661871-38661872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541758675	chr19:38661882-38661883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565157356	chr19:38661895-38661896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8105919	chr19:38661957-38661958	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112304340	chr19:38661968-38661969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532504392	chr19:38661997-38661998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564070324	chr19:38662089-38662090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528237202	chr19:38662091-38662092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187033578	chr19:38662138-38662139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562794434	chr19:38662157-38662158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191069299	chr19:38662252-38662253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369210429	chr19:38662266-38662267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368443724	chr19:38662369-38662370	Weak transcription Strong transcription Enhancers	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
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
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
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38638200-38667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:38653400-38663400	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:38653600-38663200	Strong transcription	Gastric	stomach
4	chr19:38653600-38663400	Weak transcription	HUVEC	blood vessel
5	chr19:38653600-38663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:38653600-38663800	Strong transcription	Fetal Intestine Large	intestine
7	chr19:38653600-38665200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:38653600-38668600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
10	chr19:38653800-38662400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:38653800-38663600	Weak transcription	HMEC	breast
12	chr19:38653800-38663800	Strong transcription	Fetal Intestine Small	intestine
13	chr19:38653800-38664000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:38653800-38666600	Strong transcription	A549	lung
15	chr19:38653800-38670800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:38654000-38663000	Weak transcription	NHEK	skin
17	chr19:38654000-38664000	Strong transcription	Fetal Stomach	stomach
18	chr19:38655200-38669400	Weak transcription	Fetal Lung	lung
19	chr19:38656200-38662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:38656200-38662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:38656200-38663400	Weak transcription	HSMM	muscle
22	chr19:38656200-38664200	Weak transcription	HSMMtube	muscle
23	chr19:38656200-38664200	Weak transcription	NHDF-Ad	bronchial
24	chr19:38656200-38675200	Weak transcription	Stomach Mucosa	stomach
25	chr19:38656400-38662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:38656400-38663800	Weak transcription	Right Ventricle	heart
27	chr19:38656400-38670400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:38656400-38670400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:38656400-38670800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:38656400-38671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:38656400-38674000	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:38656800-38669400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:38657400-38662400	Weak transcription	Brain Angular Gyrus	brain
34	chr19:38657400-38665800	Weak transcription	NHLF	lung
35	chr19:38657600-38662400	Weak transcription	Left Ventricle	heart
36	chr19:38657600-38673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:38657600-38673800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:38657800-38663600	Weak transcription	Colonic Mucosa	Colon
40	chr19:38657800-38669600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:38658400-38663200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:38658400-38674000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:38658400-38684800	Weak transcription	HepG2	liver
44	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:38658600-38662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:38658600-38662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:38658600-38663000	Weak transcription	Ovary	ovary
48	chr19:38658600-38670800	Weak transcription	Fetal Brain Female	brain
49	chr19:38658800-38669200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:38658800-38669400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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