Variant report

Variant	esv3370867
Chromosome Location	chr14:47051052-47052100
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	chr14:47050439..47051198-chr14:48008059..48008561,2	MCF-7	breast:
2	chr14:47049606..47051836-chr14:47067092..47069403,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 56 )

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	rs114618025	chr14:47051087-47051088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534653291	chr14:47051098-47051099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572842835	chr14:47051118-47051119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571249036	chr14:47051121-47051122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538542324	chr14:47051216-47051217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144930304	chr14:47051217-47051218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575320309	chr14:47051221-47051222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536365807	chr14:47051247-47051248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4313729	chr14:47051274-47051275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572968664	chr14:47051299-47051300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191456783	chr14:47051314-47051315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564856777	chr14:47051316-47051317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376177771	chr14:47051325-47051326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578216846	chr14:47051326-47051327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140888931	chr14:47051330-47051331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563922645	chr14:47051342-47051343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61991146	chr14:47051372-47051373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs71418112	chr14:47051383-47051384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186726597	chr14:47051384-47051385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528556995	chr14:47051455-47051456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2924095	chr14:47051460-47051461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2924096	chr14:47051503-47051504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568936212	chr14:47051509-47051510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2924097	chr14:47051514-47051515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571288186	chr14:47051527-47051528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111701736	chr14:47051543-47051544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550569846	chr14:47051565-47051566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536385078	chr14:47051586-47051587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144463219	chr14:47051587-47051588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3007058	chr14:47051595-47051596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116731007	chr14:47051613-47051614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71418113	chr14:47051616-47051617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35436705	chr14:47051625-47051626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554792583	chr14:47051629-47051630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111425360	chr14:47051648-47051649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572876460	chr14:47051650-47051651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533847884	chr14:47051656-47051657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558607556	chr14:47051712-47051713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576728667	chr14:47051719-47051720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545693645	chr14:47051877-47051878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141925522	chr14:47051889-47051890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554784485	chr14:47051976-47051977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149792738	chr14:47051977-47051978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575892222	chr14:47051989-47051990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542854194	chr14:47052008-47052009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542376099	chr14:47052051-47052052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561131347	chr14:47052100-47052101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47039000-47055000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:47045000-47051600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:47050800-47051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:47051400-47053800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:47051600-47051800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:47051600-47052400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:47051600-47052600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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