Variant report

Variant	esv3390786
Chromosome Location	chr12:40871685-40877783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40872855-40879178	NONHSAT027728

Extended variants
information (count: 348 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559806842	chr12:40871688-40871689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117737937	chr12:40871738-40871739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150248641	chr12:40871805-40871806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377131098	chr12:40871831-40871832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531230210	chr12:40871858-40871859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73267834	chr12:40871874-40871875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138999512	chr12:40871888-40871889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142246935	chr12:40871906-40871907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547656762	chr12:40871923-40871924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565881415	chr12:40871944-40871945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144573636	chr12:40871962-40871963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187163955	chr12:40871999-40872000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200990024	chr12:40872013-40872014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61913650	chr12:40872069-40872070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1492337	chr12:40872079-40872080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11176808	chr12:40872089-40872090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1492338	chr12:40872090-40872091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559473977	chr12:40872104-40872105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150872359	chr12:40872148-40872149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577831901	chr12:40872152-40872153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545464762	chr12:40872154-40872155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200519476	chr12:40872160-40872161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200449627	chr12:40872162-40872163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78850014	chr12:40872163-40872164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386762379	chr12:40872164-40872165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61913651	chr12:40872166-40872167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78150930	chr12:40872167-40872168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77591467	chr12:40872169-40872170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374698965	chr12:40872170-40872171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80039706	chr12:40872173-40872174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369986642	chr12:40872181-40872182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1444217	chr12:40872201-40872202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531319525	chr12:40872222-40872223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543111763	chr12:40872235-40872236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561404444	chr12:40872295-40872296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576568043	chr12:40872349-40872350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562011464	chr12:40872360-40872361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149257945	chr12:40872410-40872411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191265687	chr12:40872420-40872421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558943939	chr12:40872440-40872441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11176809	chr12:40872442-40872443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183719038	chr12:40872467-40872468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190254521	chr12:40872526-40872527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370510983	chr12:40872532-40872533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1838353	chr12:40872540-40872541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144485578	chr12:40872579-40872580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555527234	chr12:40872642-40872643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573982084	chr12:40872662-40872663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148438271	chr12:40872663-40872664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73100414	chr12:40872682-40872683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40869400-40872800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:40869600-40872800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:40869600-40873000	Weak transcription	HMEC	breast
4	chr12:40870600-40872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:40872800-40873600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr12:40872800-40873800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr12:40872800-40873800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40873000-40873200	ZNF genes & repeats	HMEC	breast
9	chr12:40873800-40875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:40877600-40878000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr12:40877600-40878800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links