Variant report

Variant	esv3441791
Chromosome Location	chr19:43859812-43864110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138962093	chr19:43859812-43859813	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149427590	chr19:43859817-43859818	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144809107	chr19:43859844-43859845	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370248027	chr19:43859848-43859849	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556441386	chr19:43859862-43859863	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374615051	chr19:43859951-43859952	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367981894	chr19:43859955-43859956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185339514	chr19:43859962-43859963	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190200494	chr19:43859964-43859965	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374285742	chr19:43859987-43859988	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563207389	chr19:43859991-43859992	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560964645	chr19:43859997-43859998	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112666621	chr19:43860001-43860002	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73039860	chr19:43860030-43860031	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2286403	chr19:43860048-43860049	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71350665	chr19:43860053-43860054	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182730265	chr19:43860074-43860075	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71350666	chr19:43860076-43860077	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529134765	chr19:43860127-43860128	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111926611	chr19:43860138-43860139	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549163751	chr19:43860141-43860142	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562514247	chr19:43860187-43860188	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71337594	chr19:43860192-43860193	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551935907	chr19:43860204-43860205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571745049	chr19:43860207-43860208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368350368	chr19:43860249-43860250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199668750	chr19:43860251-43860252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200662237	chr19:43860255-43860256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536501178	chr19:43860300-43860301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556740120	chr19:43860301-43860302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560744369	chr19:43860410-43860411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71337595	chr19:43860451-43860452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71337596	chr19:43860465-43860466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79879931	chr19:43860472-43860473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71350668	chr19:43860578-43860579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71350669	chr19:43860602-43860603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71350670	chr19:43860613-43860614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71337597	chr19:43860628-43860629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71350671	chr19:43860885-43860886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201826732	chr19:43861149-43861150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62113737	chr19:43861201-43861202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62113738	chr19:43861214-43861215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199632537	chr19:43862455-43862456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71337598	chr19:43862944-43862945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62113739	chr19:43862954-43862955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374183997	chr19:43862961-43862962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71337600	chr19:43862999-43863000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200730034	chr19:43863120-43863121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71337602	chr19:43863151-43863152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71339503	chr19:43863157-43863158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43855800-43864200	Weak transcription	Right Atrium	heart
2	chr19:43859000-43860000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr19:43859000-43864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:43859400-43860200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:43859800-43860000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:43859800-43860200	Enhancers	HMEC	breast
7	chr19:43860000-43860200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:43860200-43864000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:43862800-43873200	Weak transcription	Gastric	stomach
12	chr19:43863000-43864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:43864000-43864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr19:43864000-43864600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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