Variant report

Variant	esv3356686
Chromosome Location	chr14:42138502-42140575
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	chr14:42115796..42117839-chr14:42138111..42140746,2	MCF-7	breast:
2	chr14:42137859..42140721-chr14:42141266..42143732,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375646518	chr14:42138505-42138506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541207232	chr14:42138557-42138558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143112224	chr14:42138572-42138573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534352142	chr14:42138677-42138678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538154020	chr14:42138679-42138680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552953205	chr14:42138681-42138682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145151926	chr14:42138748-42138749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568656755	chr14:42138793-42138794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536086295	chr14:42138794-42138795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554430394	chr14:42138803-42138804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180844021	chr14:42138899-42138900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117661590	chr14:42138903-42138904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58650867	chr14:42138919-42138920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576815958	chr14:42138926-42138927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544169288	chr14:42138967-42138968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562836078	chr14:42138975-42138976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529816440	chr14:42139114-42139115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11418822	chr14:42139141-42139142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141299812	chr14:42139165-42139166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201680960	chr14:42139187-42139188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11418821	chr14:42139188-42139189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56994632	chr14:42139193-42139194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541594717	chr14:42139208-42139209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569159216	chr14:42139231-42139232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549698560	chr14:42139250-42139251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201821437	chr14:42139258-42139259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57767999	chr14:42139261-42139262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561280568	chr14:42139277-42139278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527734612	chr14:42139303-42139304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185883423	chr14:42139306-42139307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191459406	chr14:42139328-42139329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558456357	chr14:42139334-42139335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570750362	chr14:42139337-42139338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10597849	chr14:42139344-42139345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199860243	chr14:42139351-42139352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149342230	chr14:42139375-42139376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144733154	chr14:42139389-42139390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199613410	chr14:42139406-42139407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35688635	chr14:42139407-42139408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199686053	chr14:42139412-42139413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200934072	chr14:42139420-42139421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10141486	chr14:42139433-42139434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377344553	chr14:42139459-42139460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565291351	chr14:42139475-42139476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10141574	chr14:42139509-42139510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543937213	chr14:42139510-42139511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181154813	chr14:42139556-42139557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141886536	chr14:42139610-42139611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554364970	chr14:42139614-42139615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557270110	chr14:42139659-42139660	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:1 , 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

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