Variant report

Variant	esv3531011
Chromosome Location	chr14:42985302-42992000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571549575	chr14:42985334-42985335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538559922	chr14:42985365-42985366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111774555	chr14:42985380-42985381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568514733	chr14:42985381-42985382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184360185	chr14:42985382-42985383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543017632	chr14:42985444-42985445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189158612	chr14:42985464-42985465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573355067	chr14:42985466-42985467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563267493	chr14:42985468-42985469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534433840	chr14:42985477-42985478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34162495	chr14:42985511-42985512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397853454	chr14:42985531-42985532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397852151	chr14:42985532-42985533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61991363	chr14:42985534-42985535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558973474	chr14:42985538-42985539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577581600	chr14:42985553-42985554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542343427	chr14:42985580-42985581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7151994	chr14:42985652-42985653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs61078002	chr14:42985653-42985654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181152553	chr14:42985665-42985666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72680441	chr14:42985714-42985715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138224818	chr14:42985735-42985736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78690205	chr14:42985770-42985771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141815633	chr14:42985778-42985779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371999788	chr14:42985800-42985801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532226880	chr14:42985801-42985802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370616605	chr14:42985804-42985805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548397564	chr14:42985815-42985816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550470950	chr14:42985831-42985832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568504144	chr14:42985907-42985908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7151539	chr14:42985916-42985917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184835044	chr14:42985928-42985929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571566357	chr14:42986031-42986032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189713762	chr14:42986084-42986085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150653469	chr14:42986097-42986098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559081962	chr14:42986118-42986119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571062801	chr14:42986166-42986167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8018324	chr14:42986168-42986169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556940871	chr14:42986210-42986211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180890086	chr14:42986211-42986212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570856443	chr14:42986238-42986239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138798483	chr14:42986242-42986243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553476529	chr14:42986287-42986288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572990771	chr14:42986348-42986349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557637837	chr14:42986361-42986362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186107107	chr14:42986382-42986383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149520030	chr14:42986424-42986425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536785272	chr14:42986437-42986438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564696928	chr14:42986446-42986447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147187458	chr14:42986489-42986490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42983400-42987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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