Variant report

Variant	esv3418256
Chromosome Location	chr7:52739708-52741856
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	chr7:52731842..52733359-chr7:52737655..52740538,2	K562	blood:
2	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200662696	chr7:52739711-52739712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201473492	chr7:52739712-52739713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549248055	chr7:52739713-52739714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562434777	chr7:52739715-52739716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183030117	chr7:52739716-52739717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551067313	chr7:52739730-52739731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138604912	chr7:52739736-52739737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539709936	chr7:52739742-52739743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546896634	chr7:52739747-52739748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114987050	chr7:52739770-52739771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187374562	chr7:52739783-52739784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535648532	chr7:52739788-52739789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34360843	chr7:52739790-52739791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555966232	chr7:52739813-52739814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74641263	chr7:52739838-52739839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538360413	chr7:52739850-52739851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117246651	chr7:52739851-52739852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536188251	chr7:52739884-52739885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12536550	chr7:52739885-52739886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114262410	chr7:52739888-52739889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560464910	chr7:52739910-52739911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149316027	chr7:52739928-52739929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12536581	chr7:52739951-52739952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147434679	chr7:52739962-52739963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531278471	chr7:52740004-52740005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551470410	chr7:52740016-52740017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138251637	chr7:52740023-52740024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527290882	chr7:52740031-52740032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143836399	chr7:52740072-52740073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566813271	chr7:52740092-52740093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116806637	chr7:52740161-52740162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556475818	chr7:52740199-52740200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12539018	chr7:52740235-52740236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34047048	chr7:52740240-52740241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537914450	chr7:52740269-52740270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35943655	chr7:52740280-52740281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571816606	chr7:52740285-52740286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572504271	chr7:52740337-52740338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534176396	chr7:52740345-52740346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554244120	chr7:52740347-52740348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573960719	chr7:52740380-52740381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192936378	chr7:52740384-52740385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36162165	chr7:52740444-52740445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73696293	chr7:52740474-52740475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs199950511	chr7:52740503-52740504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369192701	chr7:52740505-52740506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141917846	chr7:52740509-52740510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58268779	chr7:52740512-52740513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72227294	chr7:52740514-52740515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35105343	chr7:52740520-52740521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52739600-52739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:52739800-52746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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