Variant report

Variant	esv1792576
Chromosome Location	chr7:33476376-33482084
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	chr7:33480819..33483351-chr7:33485248..33487940,2	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs1419926	chr7:33476376-33476377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538856851	chr7:33476385-33476386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181569537	chr7:33476403-33476404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186984041	chr7:33476447-33476448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542596472	chr7:33476472-33476473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560987046	chr7:33476479-33476480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573049042	chr7:33476488-33476489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6961840	chr7:33476505-33476506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150356548	chr7:33476523-33476524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115493141	chr7:33476526-33476527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550818968	chr7:33476606-33476607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116827364	chr7:33476645-33476646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529851456	chr7:33476693-33476694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75588193	chr7:33476720-33476721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183344611	chr7:33476738-33476739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373836866	chr7:33476774-33476775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527293035	chr7:33476825-33476826	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539961710	chr7:33476887-33476888	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367704524	chr7:33476904-33476905	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138070263	chr7:33476905-33476906	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538824508	chr7:33476949-33476950	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10429255	chr7:33476974-33476975	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113213488	chr7:33477058-33477059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536395056	chr7:33477077-33477078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554765659	chr7:33477093-33477094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528977506	chr7:33477100-33477101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74320483	chr7:33477130-33477131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540282277	chr7:33477146-33477147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189767968	chr7:33477153-33477154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577240869	chr7:33477155-33477156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141123250	chr7:33477167-33477168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562716251	chr7:33477174-33477175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529811410	chr7:33477214-33477215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145614375	chr7:33477222-33477223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560001005	chr7:33477223-33477224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527247574	chr7:33477261-33477262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569059571	chr7:33477314-33477315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533283065	chr7:33477329-33477330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554294657	chr7:33477345-33477346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13234403	chr7:33477351-33477352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571892810	chr7:33477359-33477360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371721849	chr7:33477363-33477364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182343859	chr7:33477388-33477389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569059381	chr7:33477437-33477438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566759061	chr7:33477439-33477440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570760093	chr7:33477482-33477483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536454550	chr7:33477483-33477484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138266907	chr7:33477527-33477528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187862254	chr7:33477537-33477538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534631076	chr7:33477596-33477597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33454800-33476800	Weak transcription	Aorta	Aorta
2	chr7:33463000-33476800	Weak transcription	Psoas Muscle	Psoas
3	chr7:33468400-33478600	Weak transcription	Pancreas	Pancrea
4	chr7:33473200-33478000	Weak transcription	Fetal Lung	lung
5	chr7:33473400-33480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:33475400-33516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:33476800-33477000	ZNF genes & repeats	Aorta	Aorta
8	chr7:33476800-33477000	Enhancers	Psoas Muscle	Psoas
9	chr7:33477000-33477400	Weak transcription	Psoas Muscle	Psoas
10	chr7:33477000-33478600	Weak transcription	Aorta	Aorta
11	chr7:33477400-33477600	Enhancers	Psoas Muscle	Psoas
12	chr7:33477600-33483600	Weak transcription	Psoas Muscle	Psoas
13	chr7:33478000-33478400	Enhancers	Fetal Lung	lung
14	chr7:33478400-33481800	Weak transcription	Fetal Lung	lung
15	chr7:33478600-33478800	Enhancers	Aorta	Aorta
16	chr7:33479400-33479600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:33480000-33480400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:33481800-33489000	Enhancers	Fetal Lung	lung

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