Variant report

Variant	esv3333030
Chromosome Location	chr14:37224823-37226696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37117007..37117865-chr14:37224585..37225500,2	MCF-7	breast:
2	chr14:37225583..37228610-chr14:37234821..37238583,4	MCF-7	breast:
3	chr14:37223003..37225954-chr14:37410221..37412126,2	MCF-7	breast:
4	chr14:37223484..37226106-chr17:12264247..12267182,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576046141	chr14:37224829-37224830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565895058	chr14:37224863-37224864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368826330	chr14:37224875-37224876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371758133	chr14:37224881-37224882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56243940	chr14:37224882-37224883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544813744	chr14:37224897-37224898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373559058	chr14:37224906-37224907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564695260	chr14:37224926-37224927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578132409	chr14:37224928-37224929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369978752	chr14:37224930-37224931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79408439	chr14:37225007-37225008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548443717	chr14:37225027-37225028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11628053	chr14:37225028-37225029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549151050	chr14:37225031-37225032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569990558	chr14:37225037-37225038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561646306	chr14:37225057-37225058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530741569	chr14:37225058-37225059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550345944	chr14:37225074-37225075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73262701	chr14:37225100-37225101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539273349	chr14:37225135-37225136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546629165	chr14:37225160-37225161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566452012	chr14:37225191-37225192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537488271	chr14:37225199-37225200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535419256	chr14:37225211-37225212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555113039	chr14:37225222-37225223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147751973	chr14:37225370-37225371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538571705	chr14:37225411-37225412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558502691	chr14:37225419-37225420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114257012	chr14:37225517-37225518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540472024	chr14:37225581-37225582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560626739	chr14:37225615-37225616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574098777	chr14:37225623-37225624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148795674	chr14:37225641-37225642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182483973	chr14:37225672-37225673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562576936	chr14:37225683-37225684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531614410	chr14:37225736-37225737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184933874	chr14:37225761-37225762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377007958	chr14:37225765-37225766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533111812	chr14:37225810-37225811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552281351	chr14:37225819-37225820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370011505	chr14:37225948-37225949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546516056	chr14:37225987-37225988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142424842	chr14:37226010-37226011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189739360	chr14:37226017-37226018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548980770	chr14:37226034-37226035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1325533	chr14:37226055-37226056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs151289205	chr14:37226070-37226071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182369485	chr14:37226087-37226088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536905745	chr14:37226184-37226185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185451014	chr14:37226185-37226186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	21272361	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37217400-37234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:37222000-37225000	Weak transcription	Esophagus	oesophagus
3	chr14:37224600-37226000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:37225000-37225800	Enhancers	Esophagus	oesophagus
5	chr14:37225800-37234000	Weak transcription	Esophagus	oesophagus

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