Variant report

Variant	esv3431215
Chromosome Location	chr14:70903367-70909828
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	chr14:70884634..70887118-chr14:70904872..70907534,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10147091	chr14:70907214-70907215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530427997	chr14:70907235-70907236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371887976	chr14:70907254-70907255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547746426	chr14:70907284-70907285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559735409	chr14:70907308-70907309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188297967	chr14:70907413-70907414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10147036	chr14:70907414-70907415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570245732	chr14:70907430-70907431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537632360	chr14:70907438-70907439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145198323	chr14:70907491-70907492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11158861	chr14:70907497-70907498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181115967	chr14:70907590-70907591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554967584	chr14:70907624-70907625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73291950	chr14:70907630-70907631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151011943	chr14:70907631-70907632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374706886	chr14:70907646-70907647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186611750	chr14:70907689-70907690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139596737	chr14:70907705-70907706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577315564	chr14:70907727-70907728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149743839	chr14:70907792-70907793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10147533	chr14:70907804-70907805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148924054	chr14:70907808-70907809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542140941	chr14:70907871-70907872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560439166	chr14:70907931-70907932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376072336	chr14:70907997-70907998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145717622	chr14:70908039-70908040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538064246	chr14:70908040-70908041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146567782	chr14:70908045-70908046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74721520	chr14:70908061-70908062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189867245	chr14:70908062-70908063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113766155	chr14:70908069-70908070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145084381	chr14:70908097-70908098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8020995	chr14:70908190-70908191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11628785	chr14:70908217-70908218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572476541	chr14:70908248-70908249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8020009	chr14:70908281-70908282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564818588	chr14:70908300-70908301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148350501	chr14:70908316-70908317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376938771	chr14:70908380-70908381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371230796	chr14:70908422-70908423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182083148	chr14:70908453-70908454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570817341	chr14:70908456-70908457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187124872	chr14:70908464-70908465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191082693	chr14:70908474-70908475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574952094	chr14:70908478-70908479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542049441	chr14:70908498-70908499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554032837	chr14:70908501-70908502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183265158	chr14:70908534-70908535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545345500	chr14:70908539-70908540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370549250	chr14:70908646-70908647	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70907200-70908800	Weak transcription	Left Ventricle	heart
2	chr14:70908400-70915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:70908800-70909800	ZNF genes & repeats	Left Ventricle	heart
4	chr14:70908800-70910800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr14:70908800-70921600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:70909000-70910400	ZNF genes & repeats	Aorta	Aorta
7	chr14:70909200-70910800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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