Variant report

Variant	esv2495579
Chromosome Location	chr14:81596593-81597975
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	chr14:81596731..81598312-chr14:81628484..81630801,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72627196	chr14:81596595-81596596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188895417	chr14:81596661-81596662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181761502	chr14:81596725-81596726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372030067	chr14:81596728-81596729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562087711	chr14:81596768-81596769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562290169	chr14:81596794-81596795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142727169	chr14:81596798-81596799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551052355	chr14:81596804-81596805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147516412	chr14:81597014-81597015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114090787	chr14:81597047-81597048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187365447	chr14:81597056-81597057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552132034	chr14:81597101-81597102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567139241	chr14:81597132-81597133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28722616	chr14:81597141-81597142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552932679	chr14:81597204-81597205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377691369	chr14:81597218-81597219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528949558	chr14:81597227-81597228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541139448	chr14:81597247-81597248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567921018	chr14:81597289-81597290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536568463	chr14:81597342-81597343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367613349	chr14:81597357-81597358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182761351	chr14:81597358-81597359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372111977	chr14:81597359-81597360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76794218	chr14:81597361-81597362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114004917	chr14:81597366-81597367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556607990	chr14:81597445-81597446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150032321	chr14:81597480-81597481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545576268	chr14:81597501-81597502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184936002	chr14:81597517-81597518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532789889	chr14:81597541-81597542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59500227	chr14:81597547-81597548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115110829	chr14:81597565-81597566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569833795	chr14:81597625-81597626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573342697	chr14:81597632-81597633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374174665	chr14:81597702-81597703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78851612	chr14:81597714-81597715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529236498	chr14:81597718-81597719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544738799	chr14:81597740-81597741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189790094	chr14:81597788-81597789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533602129	chr14:81597819-81597820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144407528	chr14:81597822-81597823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567099390	chr14:81597825-81597826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544239097	chr14:81597848-81597849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549372187	chr14:81597862-81597863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114671638	chr14:81597885-81597886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148797268	chr14:81597896-81597897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182371649	chr14:81597927-81597928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81592200-81597800	Weak transcription	Liver	Liver
2	chr14:81592200-81609000	Weak transcription	Thymus	Thymus
3	chr14:81592400-81601000	Weak transcription	Dnd41	blood
4	chr14:81597800-81600200	Enhancers	Liver	Liver

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