Variant report

Variant	esv3357181
Chromosome Location	chr19:39719537-39722085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546819741	chr19:39720611-39720612	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs146864841	chr19:39720612-39720613	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71169576	chr19:39720621-39720622	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542087560	chr19:39720631-39720632	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140016610	chr19:39720671-39720672	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145439850	chr19:39720715-39720716	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551715032	chr19:39720716-39720717	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs180719800	chr19:39720727-39720728	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569118171	chr19:39720729-39720730	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113546861	chr19:39720732-39720733	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559378310	chr19:39720750-39720751	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533454029	chr19:39720755-39720756	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372371421	chr19:39720762-39720763	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568099500	chr19:39720763-39720764	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186096447	chr19:39720764-39720765	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369732017	chr19:39720765-39720766	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200188673	chr19:39720771-39720772	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371846739	chr19:39720789-39720790	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373174443	chr19:39720791-39720792	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201733640	chr19:39720792-39720793	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553813395	chr19:39721215-39721216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190738882	chr19:39721299-39721300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146419059	chr19:39721303-39721304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574836143	chr19:39721362-39721363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183103735	chr19:39721429-39721430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187029441	chr19:39721448-39721449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535630946	chr19:39721449-39721450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372959163	chr19:39721458-39721459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575741864	chr19:39721503-39721504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557600681	chr19:39721529-39721530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546024736	chr19:39721593-39721594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374384636	chr19:39721613-39721614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140951223	chr19:39721673-39721674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539806976	chr19:39721677-39721678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576544460	chr19:39721678-39721679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561533452	chr19:39721702-39721703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553500967	chr19:39721705-39721706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528932687	chr19:39721714-39721715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143079972	chr19:39721760-39721761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543675924	chr19:39721808-39721809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555594252	chr19:39721836-39721837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574001543	chr19:39721841-39721842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373300437	chr19:39721867-39721868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8107090	chr19:39721915-39721916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148210051	chr19:39721930-39721931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527595463	chr19:39721941-39721942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112728861	chr19:39721975-39721976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530851950	chr19:39721993-39721994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190271891	chr19:39721994-39721995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369513262	chr19:39722020-39722021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39720600-39720800	Flanking Active TSS	HSMM	muscle
2	chr19:39721200-39721400	Active TSS	Stomach Mucosa	stomach
3	chr19:39721400-39728200	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links