Variant report

Variant	esv3347566
Chromosome Location	chr7:14382677-14384825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185631175	chr7:14382733-14382734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189306093	chr7:14382761-14382762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375866150	chr7:14382782-14382783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3067654	chr7:14382824-14382825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75885169	chr7:14382825-14382826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573542768	chr7:14382871-14382872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542363912	chr7:14382905-14382906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559373506	chr7:14382928-14382929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148387938	chr7:14382998-14382999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76273031	chr7:14383028-14383029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564648836	chr7:14383034-14383035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369146612	chr7:14383037-14383038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542978935	chr7:14383063-14383064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141627848	chr7:14383103-14383104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114684646	chr7:14383121-14383122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569953380	chr7:14383178-14383179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529259351	chr7:14383205-14383206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373473257	chr7:14383288-14383289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566196981	chr7:14383296-14383297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1991732	chr7:14383396-14383397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200047816	chr7:14383478-14383479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531268507	chr7:14383531-14383532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35454408	chr7:14383536-14383537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11270043	chr7:14383566-14383567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529137245	chr7:14383632-14383633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536808348	chr7:14383653-14383654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571099000	chr7:14383668-14383669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542464251	chr7:14383675-14383676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139858166	chr7:14383690-14383691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556792634	chr7:14383695-14383696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530573678	chr7:14383698-14383699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573580253	chr7:14383707-14383708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368883930	chr7:14383722-14383723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552797079	chr7:14383732-14383733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536212870	chr7:14383795-14383796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10248432	chr7:14383801-14383802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs118153867	chr7:14383839-14383840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2099280	chr7:14383873-14383874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559487792	chr7:14383917-14383918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577415036	chr7:14383960-14383961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377378764	chr7:14384058-14384059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141600003	chr7:14384075-14384076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146213607	chr7:14384084-14384085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578182181	chr7:14384086-14384087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79880829	chr7:14384096-14384097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139260889	chr7:14384122-14384123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528623732	chr7:14384133-14384134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529545939	chr7:14384200-14384201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200061484	chr7:14384244-14384245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551890893	chr7:14384332-14384333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14380200-14383200	Enhancers	Fetal Heart	heart
2	chr7:14381600-14382800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14381800-14382800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:14381800-14383200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:14382800-14383000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:14383000-14383200	Enhancers	Colon Smooth Muscle	Colon
7	chr7:14383000-14384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:14383200-14383400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:14383200-14390800	Weak transcription	Fetal Heart	heart

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