Variant report

Variant	esv2440961
Chromosome Location	chr14:78827652-78829318
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	chr14:78825123..78827565-chr14:78828633..78831114,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 72 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6574436	chr14:78827819-78827820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368666245	chr14:78827851-78827852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561630102	chr14:78827857-78827858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142187290	chr14:78827879-78827880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567796958	chr14:78827926-78827927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541305828	chr14:78827936-78827937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191537172	chr14:78827942-78827943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146380971	chr14:78827963-78827964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535230801	chr14:78828002-78828003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553923147	chr14:78828031-78828032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72697854	chr14:78828082-78828083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35754513	chr14:78828097-78828098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569337203	chr14:78828143-78828144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371050205	chr14:78828147-78828148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139758630	chr14:78828149-78828150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539674633	chr14:78828167-78828168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568084019	chr14:78828199-78828200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558098701	chr14:78828214-78828215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533908285	chr14:78828218-78828219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139248413	chr14:78828243-78828244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550501032	chr14:78828246-78828247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61976055	chr14:78828317-78828318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142382575	chr14:78828581-78828582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142282509	chr14:78828582-78828583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141370641	chr14:78828584-78828585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76032142	chr14:78828596-78828597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570797277	chr14:78828599-78828600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376089022	chr14:78828646-78828647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397731478	chr14:78828657-78828658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540070017	chr14:78828660-78828661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556437038	chr14:78828742-78828743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77880327	chr14:78828778-78828779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535169648	chr14:78828782-78828783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555426633	chr14:78828820-78828821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577279977	chr14:78828830-78828831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572100576	chr14:78828910-78828911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183448932	chr14:78828913-78828914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375093413	chr14:78828953-78828954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148725160	chr14:78829022-78829023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8004415	chr14:78829037-78829038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563303982	chr14:78829054-78829055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186928750	chr14:78829076-78829077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548301602	chr14:78829115-78829116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8006004	chr14:78829124-78829125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs527718160	chr14:78829144-78829145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371079653	chr14:78829161-78829162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547196201	chr14:78829193-78829194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571129424	chr14:78829248-78829249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539707025	chr14:78829277-78829278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191424691	chr14:78829317-78829318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	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
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78825600-78827800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:78826400-78833200	Weak transcription	Brain Germinal Matrix	brain
3	chr14:78827000-78833400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:78827400-78833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:78827800-78831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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