Variant report

Variant	esv2763074
Chromosome Location	chr14:84435911-84439668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7153137	chr14:84435911-84435912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111597002	chr14:84435994-84435995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146836109	chr14:84436007-84436008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553505443	chr14:84436038-84436039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116797074	chr14:84436044-84436045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112883093	chr14:84436086-84436087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148983029	chr14:84436094-84436095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573959566	chr14:84436099-84436100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549116994	chr14:84436187-84436188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111724261	chr14:84436207-84436208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113720082	chr14:84436209-84436210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544311999	chr14:84436245-84436246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375504650	chr14:84436249-84436250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28616057	chr14:84436251-84436252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372910788	chr14:84436289-84436290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545519618	chr14:84436304-84436305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534861742	chr14:84436305-84436306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35478357	chr14:84436332-84436333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386381998	chr14:84436333-84436334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368143137	chr14:84436338-84436339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56199821	chr14:84436339-84436340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199503384	chr14:84436340-84436341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185036477	chr14:84436343-84436344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61585873	chr14:84436363-84436364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116853061	chr14:84436368-84436369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567899301	chr14:84436394-84436395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556556544	chr14:84436448-84436449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189463560	chr14:84436478-84436479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148125430	chr14:84436490-84436491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570914879	chr14:84436505-84436506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538308287	chr14:84436529-84436530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553468659	chr14:84436539-84436540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140929152	chr14:84436548-84436549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150201283	chr14:84436627-84436628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575258885	chr14:84436656-84436657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554830447	chr14:84436663-84436664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139061714	chr14:84436716-84436717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192417576	chr14:84436725-84436726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10149934	chr14:84436727-84436728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs578075812	chr14:84436774-84436775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35958481	chr14:84436775-84436776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370153506	chr14:84436826-84436827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143698595	chr14:84436852-84436853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113179910	chr14:84436881-84436882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183799709	chr14:84436885-84436886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111750693	chr14:84436908-84436909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531865002	chr14:84436952-84436953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550459993	chr14:84436955-84436956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570877859	chr14:84436970-84436971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373321088	chr14:84436995-84436996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84419000-84436000	Weak transcription	Pancreas	Pancrea
2	chr14:84427800-84436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:84434800-84436000	Weak transcription	Ovary	ovary
4	chr14:84435400-84436800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:84436000-84436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:84436000-84436600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:84436000-84436600	Enhancers	Ovary	ovary
8	chr14:84436000-84436800	Enhancers	Pancreas	Pancrea
9	chr14:84436200-84436600	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:84436200-84440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:84436600-84440000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:84436600-84442000	Weak transcription	Ovary	ovary
13	chr14:84436800-84438000	Weak transcription	Pancreas	Pancrea
14	chr14:84438000-84439600	Active TSS	Pancreas	Pancrea
15	chr14:84438800-84440800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:84439600-84440600	Weak transcription	Pancreas	Pancrea
17	chr14:84439600-84443000	Enhancers	Adipose Nuclei	Adipose

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