Variant report

Variant	esv3351692
Chromosome Location	chr7:48264240-48267235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145243481	chr7:48264242-48264243	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149177605	chr7:48264290-48264291	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191803087	chr7:48264305-48264306	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144965601	chr7:48264334-48264335	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530339321	chr7:48264361-48264362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138832739	chr7:48264382-48264383	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548331413	chr7:48264389-48264390	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569938542	chr7:48264415-48264416	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530488584	chr7:48264444-48264445	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140377560	chr7:48264464-48264465	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183528135	chr7:48264496-48264497	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527809200	chr7:48264504-48264505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187650591	chr7:48264518-48264519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552285263	chr7:48264550-48264551	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193207107	chr7:48264618-48264619	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536901088	chr7:48264688-48264689	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550251621	chr7:48264697-48264698	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143801483	chr7:48264706-48264707	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201750881	chr7:48264707-48264708	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200455532	chr7:48264710-48264711	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148022142	chr7:48264724-48264725	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141728783	chr7:48264728-48264729	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6583444	chr7:48264732-48264733	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138429694	chr7:48264736-48264737	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149279608	chr7:48264740-48264741	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185540887	chr7:48264946-48264947	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190794115	chr7:48264984-48264985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538882293	chr7:48265005-48265006	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2049512	chr7:48265006-48265007	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139477718	chr7:48265059-48265060	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181544533	chr7:48265084-48265085	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553688446	chr7:48265089-48265090	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541413370	chr7:48265121-48265122	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573559570	chr7:48265164-48265165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558175010	chr7:48265175-48265176	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369140529	chr7:48265198-48265199	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143267445	chr7:48265212-48265213	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576282028	chr7:48265243-48265244	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545194167	chr7:48265264-48265265	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184634263	chr7:48265295-48265296	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527741902	chr7:48265298-48265299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547574928	chr7:48265376-48265377	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561330700	chr7:48265378-48265379	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530077718	chr7:48265382-48265383	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372462650	chr7:48265401-48265402	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376994344	chr7:48265440-48265441	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112378304	chr7:48265485-48265486	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55731709	chr7:48265487-48265488	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10263730	chr7:48265495-48265496	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75361658	chr7:48265544-48265545	Strong 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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48253400-48278200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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