Variant report

Variant	esv3368845
Chromosome Location	chr14:40995752-40998250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34462655	chr14:40995774-40995775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562132524	chr14:40995775-40995776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527451290	chr14:40995797-40995798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181637738	chr14:40995799-40995800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61988580	chr14:40995830-40995831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544718526	chr14:40995861-40995862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564541518	chr14:40995879-40995880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117131469	chr14:40995886-40995887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546997900	chr14:40995894-40995895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560446989	chr14:40995909-40995910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75783366	chr14:40995933-40995934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76555333	chr14:40996049-40996050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373734165	chr14:40996050-40996051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201084083	chr14:40996051-40996052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201958879	chr14:40996052-40996053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549221301	chr14:40996058-40996059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568962619	chr14:40996084-40996085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147645988	chr14:40996099-40996100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140690397	chr14:40996101-40996102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1959248	chr14:40996123-40996124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533570050	chr14:40996148-40996149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368041566	chr14:40996155-40996156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553485863	chr14:40996166-40996167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371064299	chr14:40996222-40996223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549789877	chr14:40996243-40996244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150095659	chr14:40996252-40996253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185976142	chr14:40996275-40996276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190145818	chr14:40996294-40996295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575930464	chr14:40996295-40996296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72645034	chr14:40996299-40996300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564602231	chr14:40996319-40996320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376099148	chr14:40996439-40996440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563894500	chr14:40996457-40996458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs68041459	chr14:40996465-40996466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560297347	chr14:40996474-40996475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202016574	chr14:40996486-40996487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368920201	chr14:40996512-40996513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372149630	chr14:40996513-40996514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398118097	chr14:40996519-40996520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112014053	chr14:40996520-40996521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113814507	chr14:40996522-40996523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182249758	chr14:40996539-40996540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187342977	chr14:40996544-40996545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7142255	chr14:40996548-40996549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113333972	chr14:40996552-40996553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190966856	chr14:40996556-40996557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182052396	chr14:40996561-40996562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185512579	chr14:40996589-40996590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547428416	chr14:40996595-40996596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567152402	chr14:40996635-40996636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Invasive pancreatic ductal carcinoma	16982739	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
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40994800-40997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:40997600-40998000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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