Variant report

Variant	esv13426
Chromosome Location	chr7:48743911-48744667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48744006..48746930-chr7:48748092..48749639,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138912189	chr7:48743926-48743927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4342546	chr7:48743935-48743936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73098427	chr7:48743996-48743997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547255201	chr7:48744012-48744013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4593477	chr7:48744033-48744034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554658413	chr7:48744051-48744052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11973849	chr7:48744090-48744091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535992724	chr7:48744098-48744099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73098432	chr7:48744102-48744103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575620218	chr7:48744109-48744110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142878380	chr7:48744117-48744118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537834537	chr7:48744250-48744251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545158193	chr7:48744260-48744261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149814372	chr7:48744333-48744334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202139368	chr7:48744376-48744377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558098122	chr7:48744431-48744432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189693040	chr7:48744434-48744435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562476658	chr7:48744457-48744458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540477240	chr7:48744463-48744464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143104931	chr7:48744480-48744481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73333712	chr7:48744498-48744499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181288859	chr7:48744501-48744502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561608237	chr7:48744502-48744503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4363147	chr7:48744571-48744572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550324305	chr7:48744582-48744583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185203759	chr7:48744598-48744599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533272694	chr7:48744623-48744624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147483435	chr7:48744644-48744645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375155531	chr7:48744650-48744651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7796476	chr7:48744660-48744661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48742600-48744000	Enhancers	Brain Germinal Matrix	brain
2	chr7:48743800-48744000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:48744000-48744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:48744600-48745400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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