Variant report

Variant	esv3406060
Chromosome Location	chr7:48367706-48372304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564216586	chr7:48367765-48367766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189965752	chr7:48367766-48367767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572450520	chr7:48367775-48367776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1568946	chr7:48367798-48367799	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561138834	chr7:48367833-48367834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530406899	chr7:48367855-48367856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556689849	chr7:48367874-48367875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543737338	chr7:48367876-48367877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563539714	chr7:48367880-48367881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192314318	chr7:48367895-48367896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202088293	chr7:48367900-48367901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140031741	chr7:48367908-48367909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142290291	chr7:48367955-48367956	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550143102	chr7:48368056-48368057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184105561	chr7:48368069-48368070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117119617	chr7:48368072-48368073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557486822	chr7:48368077-48368078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151215760	chr7:48368088-48368089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536547435	chr7:48368127-48368128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139223740	chr7:48368153-48368154	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569974937	chr7:48368167-48368168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17712690	chr7:48368222-48368223	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558807956	chr7:48368225-48368226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73323746	chr7:48368238-48368239	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534837786	chr7:48368258-48368259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75414047	chr7:48368290-48368291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574789633	chr7:48368303-48368304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145098197	chr7:48368311-48368312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369090071	chr7:48368319-48368320	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563601233	chr7:48368323-48368324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533863355	chr7:48368325-48368326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559858126	chr7:48368341-48368342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577124544	chr7:48368386-48368387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188781304	chr7:48368412-48368413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180757473	chr7:48368422-48368423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186021324	chr7:48368428-48368429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527358460	chr7:48368441-48368442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75468479	chr7:48368472-48368473	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147616617	chr7:48368475-48368476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190478465	chr7:48368518-48368519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114648661	chr7:48368548-48368549	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576498892	chr7:48368561-48368562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529640001	chr7:48368567-48368568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182138415	chr7:48368597-48368598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187667351	chr7:48368609-48368610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369954514	chr7:48368613-48368614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535117253	chr7:48368635-48368636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554806705	chr7:48368639-48368640	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190472831	chr7:48368666-48368667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541835078	chr7:48368675-48368676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48319800-48382200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48366000-48381800	Weak transcription	Primary hematopoietic stem cells	blood

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