Variant report

Variant	esv3411596
Chromosome Location	chr7:15567427-15572325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 327 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547382600	chr7:15567484-15567485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76511202	chr7:15567541-15567542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575339641	chr7:15567545-15567546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189988343	chr7:15567553-15567554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201334911	chr7:15567554-15567555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182599992	chr7:15567577-15567578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564768857	chr7:15567583-15567584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187064344	chr7:15567603-15567604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533712101	chr7:15567633-15567634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13240796	chr7:15567706-15567707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537505988	chr7:15567770-15567771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569048476	chr7:15567814-15567815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12699731	chr7:15567820-15567821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199899675	chr7:15567823-15567824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140657425	chr7:15567850-15567851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56921127	chr7:15567861-15567862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552093323	chr7:15567869-15567870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570058032	chr7:15567885-15567886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77431335	chr7:15567891-15567892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191837114	chr7:15567901-15567902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13241013	chr7:15567902-15567903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12699732	chr7:15567908-15567909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs572780701	chr7:15567948-15567949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568160928	chr7:15567972-15567973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535566820	chr7:15567990-15567991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557382441	chr7:15568031-15568032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575649800	chr7:15568055-15568056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11772287	chr7:15568136-15568137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558399008	chr7:15568187-15568188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573560707	chr7:15568214-15568215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540955199	chr7:15568247-15568248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559389021	chr7:15568256-15568257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184385975	chr7:15568259-15568260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565848945	chr7:15568265-15568266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147659346	chr7:15568303-15568304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533694615	chr7:15568327-15568328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142432933	chr7:15568336-15568337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530544963	chr7:15568337-15568338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188400175	chr7:15568343-15568344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146468709	chr7:15568350-15568351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528350760	chr7:15568393-15568394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369981120	chr7:15568411-15568412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4555981	chr7:15568424-15568425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149417033	chr7:15568434-15568435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193251983	chr7:15568441-15568442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143753393	chr7:15568515-15568516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148176855	chr7:15568528-15568529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539582782	chr7:15568563-15568564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141984475	chr7:15568566-15568567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372740151	chr7:15568603-15568604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15565600-15579000	Weak transcription	Liver	Liver
2	chr7:15571400-15571600	Enhancers	Left Ventricle	heart
3	chr7:15571800-15572400	Weak transcription	Left Ventricle	heart

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