Variant report

Variant	esv1794786
Chromosome Location	chr7:33586237-33599818
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	chr7:33573998..33576604-chr7:33584353..33586304,2	K562	blood:

Extended variants
information (count: 497 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2598408	chr7:33586237-33586238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570658193	chr7:33586263-33586264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10258692	chr7:33586265-33586266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572272022	chr7:33586268-33586269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574392880	chr7:33586284-33586285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575747089	chr7:33586292-33586293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543145977	chr7:33586296-33586297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115331270	chr7:33586356-33586357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10229540	chr7:33586359-33586360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111985415	chr7:33586383-33586384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573239441	chr7:33586392-33586393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73109622	chr7:33586402-33586403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565162783	chr7:33586523-33586524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532549399	chr7:33586581-33586582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532251027	chr7:33586590-33586591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533836770	chr7:33586594-33586595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180741558	chr7:33586596-33586597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541207395	chr7:33586610-33586611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548248024	chr7:33586615-33586616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561901759	chr7:33586627-33586628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79227275	chr7:33586667-33586668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527633798	chr7:33586674-33586675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552479645	chr7:33586675-33586676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529971408	chr7:33586703-33586704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4723292	chr7:33586725-33586726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549873083	chr7:33586728-33586729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568018967	chr7:33586746-33586747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535444408	chr7:33586876-33586877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553532888	chr7:33586884-33586885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186027162	chr7:33586909-33586910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2598407	chr7:33586936-33586937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117331756	chr7:33586968-33586969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577044296	chr7:33586973-33586974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544432920	chr7:33586975-33586976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563007649	chr7:33587030-33587031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140263816	chr7:33587063-33587064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542306533	chr7:33587076-33587077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560500101	chr7:33587081-33587082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527670482	chr7:33587083-33587084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78245195	chr7:33587101-33587102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77098922	chr7:33587102-33587103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377764144	chr7:33587135-33587136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552518654	chr7:33587143-33587144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76259254	chr7:33587155-33587156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576026753	chr7:33587185-33587186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146986301	chr7:33587246-33587247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73109624	chr7:33587281-33587282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138163091	chr7:33587322-33587323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113602360	chr7:33587342-33587343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539962889	chr7:33587349-33587350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33572000-33587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:33574600-33594200	Weak transcription	Aorta	Aorta
3	chr7:33576000-33587600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:33577800-33589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:33579000-33599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:33579000-33602800	Weak transcription	Fetal Lung	lung
7	chr7:33579200-33598800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:33579400-33594000	Weak transcription	HSMM	muscle
9	chr7:33579800-33590000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:33580000-33589400	Weak transcription	Fetal Heart	heart
11	chr7:33581000-33601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:33584200-33591600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:33584400-33601200	Weak transcription	Ovary	ovary
14	chr7:33584600-33586400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:33584600-33587600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:33584600-33591000	Weak transcription	HSMMtube	muscle
17	chr7:33584800-33594200	Weak transcription	Lung	lung
18	chr7:33587000-33588000	Enhancers	HepG2	liver
19	chr7:33587200-33587800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:33587800-33617800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:33589200-33590800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:33589400-33590400	Enhancers	HUVEC	blood vessel
23	chr7:33589400-33591400	Enhancers	Fetal Heart	heart
24	chr7:33590000-33590200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:33590000-33591400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:33590200-33593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:33590400-33594000	Weak transcription	HUVEC	blood vessel
28	chr7:33590800-33591400	Enhancers	Psoas Muscle	Psoas
29	chr7:33590800-33591600	Enhancers	Fetal Muscle Leg	muscle
30	chr7:33591000-33591400	Enhancers	HSMMtube	muscle
31	chr7:33591400-33593400	Weak transcription	Psoas Muscle	Psoas
32	chr7:33591400-33593600	Weak transcription	Fetal Heart	heart
33	chr7:33591400-33593600	Weak transcription	HSMMtube	muscle
34	chr7:33591400-33593800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:33591600-33592000	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:33591600-33592800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:33592000-33592200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:33592200-33593400	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:33592800-33665600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:33593400-33594400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:33593400-33594800	Enhancers	Psoas Muscle	Psoas
42	chr7:33593600-33594000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:33593600-33594000	Enhancers	Fetal Heart	heart
44	chr7:33593600-33594200	Enhancers	Rectal Smooth Muscle	rectum
45	chr7:33593600-33594400	Enhancers	HSMMtube	muscle
46	chr7:33593800-33594400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:33593800-33594600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:33593800-33595600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:33594000-33594400	Flanking Active TSS	Fetal Heart	heart
50	chr7:33594000-33594400	Enhancers	Stomach Smooth Muscle	stomach

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