Variant report

Variant	esv3321907
Chromosome Location	chr14:42141727-42144575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42137859..42140721-chr14:42141266..42143732,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557884908	chr14:42141734-42141735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576202215	chr14:42141875-42141876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543922155	chr14:42141895-42141896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141754042	chr14:42141927-42141928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188763290	chr14:42141956-42141957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192869510	chr14:42142148-42142149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573566569	chr14:42142228-42142229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200316442	chr14:42142229-42142230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111818624	chr14:42142233-42142234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541408268	chr14:42142251-42142252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141342919	chr14:42142305-42142306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145172421	chr14:42142333-42142334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138989870	chr14:42142334-42142335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563898373	chr14:42142335-42142336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140450008	chr14:42142338-42142339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549444499	chr14:42142365-42142366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567790863	chr14:42142398-42142399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371618028	chr14:42142414-42142415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574407340	chr14:42142447-42142448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543065740	chr14:42142459-42142460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563016496	chr14:42142493-42142494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532081293	chr14:42142507-42142508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528972347	chr14:42142517-42142518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551912715	chr14:42142520-42142521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546949970	chr14:42142525-42142526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567421647	chr14:42142530-42142531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565540628	chr14:42142542-42142543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539714698	chr14:42142587-42142588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57173950	chr14:42142590-42142591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557805375	chr14:42142608-42142609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569814567	chr14:42142615-42142616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559164524	chr14:42142618-42142619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10134330	chr14:42142621-42142622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574146324	chr14:42142630-42142631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564196582	chr14:42142652-42142653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548493201	chr14:42142694-42142695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541546787	chr14:42142707-42142708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553329335	chr14:42142748-42142749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71409479	chr14:42142757-42142758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372942263	chr14:42142758-42142759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563856532	chr14:42142780-42142781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531133713	chr14:42142797-42142798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542780464	chr14:42142806-42142807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189452330	chr14:42142807-42142808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537419877	chr14:42142900-42142901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528911555	chr14:42142904-42142905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547219776	chr14:42142910-42142911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565658473	chr14:42142979-42142980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532821728	chr14:42142992-42142993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551629823	chr14:42142995-42142996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42132600-42148000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42144400-42145200	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links