Variant report

Variant	esv3346327
Chromosome Location	chr7:13690827-13694425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139856683	chr7:13690841-13690842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374354820	chr7:13690848-13690849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546646845	chr7:13690860-13690861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559346901	chr7:13690869-13690870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528100610	chr7:13690875-13690876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs652466	chr7:13690916-13690917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117115069	chr7:13690944-13690945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189763001	chr7:13691014-13691015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539888104	chr7:13691064-13691065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142082392	chr7:13691090-13691091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577074273	chr7:13691122-13691123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181023233	chr7:13691136-13691137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116195877	chr7:13691151-13691152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10266134	chr7:13691165-13691166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542031892	chr7:13691178-13691179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561397522	chr7:13691220-13691221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375879124	chr7:13691226-13691227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530205955	chr7:13691247-13691248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59700575	chr7:13691252-13691253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560448949	chr7:13691265-13691266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186153891	chr7:13691300-13691301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552800440	chr7:13691354-13691355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569433667	chr7:13691355-13691356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538076530	chr7:13691385-13691386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548370453	chr7:13691391-13691392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567856357	chr7:13691402-13691403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533602542	chr7:13691410-13691411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116083817	chr7:13691421-13691422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146364647	chr7:13691448-13691449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539370029	chr7:13691450-13691451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188053146	chr7:13691463-13691464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556672192	chr7:13691465-13691466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576385624	chr7:13691472-13691473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542095271	chr7:13691524-13691525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561822820	chr7:13691530-13691531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181895271	chr7:13691551-13691552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540700535	chr7:13691652-13691653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560299206	chr7:13691691-13691692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113651663	chr7:13691699-13691700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376215990	chr7:13691736-13691737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552265348	chr7:13691808-13691809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563242555	chr7:13691828-13691829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186086970	chr7:13691834-13691835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139699061	chr7:13691856-13691857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200149058	chr7:13691870-13691871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568268223	chr7:13691895-13691896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111542793	chr7:13691915-13691916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144464822	chr7:13691916-13691917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115393904	chr7:13691927-13691928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190646575	chr7:13691938-13691939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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