Variant report

Variant	esv275242
Chromosome Location	chr7:48592013-48605608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 568 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138069399	chr7:48592035-48592036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149532675	chr7:48592055-48592056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527972299	chr7:48592082-48592083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547703434	chr7:48592097-48592098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567846781	chr7:48592119-48592120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187247981	chr7:48592150-48592151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563525438	chr7:48592167-48592168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565157548	chr7:48592189-48592190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11453824	chr7:48592190-48592191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397800820	chr7:48592201-48592202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548630450	chr7:48592233-48592234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575474247	chr7:48592245-48592246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537411945	chr7:48592305-48592306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4551288	chr7:48592306-48592307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75383235	chr7:48592345-48592346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376739591	chr7:48592349-48592350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6980042	chr7:48592350-48592351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116566899	chr7:48592352-48592353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573839082	chr7:48592385-48592386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543147333	chr7:48592430-48592431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192171613	chr7:48592438-48592439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374510699	chr7:48592453-48592454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183821617	chr7:48592457-48592458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189891065	chr7:48592464-48592465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111626621	chr7:48592517-48592518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58217465	chr7:48592556-48592557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548061496	chr7:48592622-48592623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561334128	chr7:48592700-48592701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115190181	chr7:48592707-48592708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67316911	chr7:48592709-48592710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568642969	chr7:48592824-48592825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568439642	chr7:48592825-48592826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550931533	chr7:48592892-48592893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537523308	chr7:48592953-48592954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551134887	chr7:48592991-48592992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1918608	chr7:48593039-48593040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116050961	chr7:48593048-48593049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114867531	chr7:48593108-48593109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192789536	chr7:48593163-48593164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536418431	chr7:48593194-48593195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78854838	chr7:48593253-48593254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35025866	chr7:48593264-48593265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77703923	chr7:48593270-48593271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576639858	chr7:48593298-48593299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1609213	chr7:48593300-48593301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558725073	chr7:48593330-48593331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566642777	chr7:48593335-48593336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535097984	chr7:48593354-48593355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1609212	chr7:48593357-48593358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541366686	chr7:48593453-48593454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48589200-48602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48591400-48592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:48594200-48599400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:48598400-48599000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:48599400-48600400	Strong transcription	Primary hematopoietic stem cells	blood
6	chr7:48600400-48634200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:48602600-48603800	Enhancers	HMEC	breast
8	chr7:48602800-48603000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:48602800-48603800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:48602800-48603800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:48603000-48603400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr7:48603000-48603600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:48603000-48603600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:48603000-48603600	Enhancers	NHEK	skin
15	chr7:48603000-48603800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:48603000-48603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:48603400-48603600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:48603600-48603800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:48603800-48605000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:48605000-48606600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:48605400-48606200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links