Variant report

Variant	esv1837822
Chromosome Location	chr14:20539305-20552611
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	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187202894	chr14:20542802-20542803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575649447	chr14:20542818-20542819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557635522	chr14:20542911-20542912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191747454	chr14:20542924-20542925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35173070	chr14:20542926-20542927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572963792	chr14:20542954-20542955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540150029	chr14:20542957-20542958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564821076	chr14:20542960-20542961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532007075	chr14:20543032-20543033	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550157794	chr14:20543038-20543039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114115290	chr14:20543063-20543064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374286850	chr14:20543066-20543067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529762707	chr14:20543078-20543079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548222550	chr14:20543089-20543090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184708936	chr14:20543092-20543093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75949813	chr14:20543099-20543100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547354043	chr14:20543103-20543104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190151705	chr14:20543137-20543138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144176637	chr14:20543141-20543142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79688388	chr14:20543144-20543145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545603633	chr14:20543147-20543148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560551047	chr14:20543159-20543160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117639507	chr14:20543164-20543165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146553137	chr14:20543193-20543194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182245748	chr14:20543216-20543217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546328841	chr14:20543260-20543261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561343136	chr14:20543364-20543365	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20542800-20543400	Active TSS	Fetal Heart	heart

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