Variant report

Variant	nsv8075
Chromosome Location	chr7:38282239-38287492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 346 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137864249	chr7:38282250-38282251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550753008	chr7:38282270-38282271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140782385	chr7:38282271-38282272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529693659	chr7:38282276-38282277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183529431	chr7:38282288-38282289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201078274	chr7:38282289-38282290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566430545	chr7:38282300-38282301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202014077	chr7:38282307-38282308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201861822	chr7:38282308-38282309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538278208	chr7:38282310-38282311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200074752	chr7:38282319-38282320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117333162	chr7:38282328-38282329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116811401	chr7:38282389-38282390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112244253	chr7:38282394-38282395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370906511	chr7:38282396-38282397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554803011	chr7:38282413-38282414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542344747	chr7:38282425-38282426	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561132946	chr7:38282433-38282434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536714218	chr7:38282486-38282487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185970144	chr7:38282506-38282507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138757073	chr7:38282538-38282539	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545057799	chr7:38282543-38282544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77182078	chr7:38282544-38282545	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375089160	chr7:38282549-38282550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141383397	chr7:38282569-38282570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561106591	chr7:38282573-38282574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73360740	chr7:38282574-38282575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546647298	chr7:38282588-38282589	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113099368	chr7:38282594-38282595	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559970598	chr7:38282602-38282603	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs532270510	chr7:38282609-38282610	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs117857144	chr7:38282618-38282619	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs539898777	chr7:38282677-38282678	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs374599458	chr7:38282682-38282683	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs568921860	chr7:38282799-38282800	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs538092340	chr7:38282806-38282807	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548516779	chr7:38282818-38282819	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568231001	chr7:38282829-38282830	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115408833	chr7:38282836-38282837	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150761042	chr7:38282854-38282855	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532496351	chr7:38282880-38282881	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113878941	chr7:38282883-38282884	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73130647	chr7:38282929-38282930	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75606174	chr7:38282939-38282940	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553965101	chr7:38282953-38282954	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547490461	chr7:38282954-38282955	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539169764	chr7:38282983-38282984	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371465914	chr7:38282998-38282999	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116201729	chr7:38283010-38283011	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201802544	chr7:38283039-38283040	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Multiple sclerosis	20428171	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	19536264	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38273800-38282600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:38273800-38292200	Weak transcription	Thymus	Thymus
3	chr7:38273800-38305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:38276800-38282800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:38276800-38285800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:38276800-38295600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:38277600-38284200	Weak transcription	Fetal Thymus	thymus
8	chr7:38277600-38292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:38277600-38292600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:38277800-38282800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:38278000-38290800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:38278200-38282400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:38278200-38287600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:38280600-38282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:38280800-38284000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:38281200-38287200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:38281600-38282400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:38281800-38284000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr7:38282000-38283000	Strong transcription	Dnd41	blood
20	chr7:38282400-38282800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:38282400-38283200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:38282600-38282800	Bivalent Enhancer	K562	blood
23	chr7:38282600-38283200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:38282600-38283200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:38282600-38283600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:38282800-38283000	Enhancers	K562	blood
27	chr7:38282800-38283000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:38282800-38283400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:38282800-38284200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:38283000-38283200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:38283000-38283800	Weak transcription	Dnd41	blood
32	chr7:38283000-38284400	Weak transcription	K562	blood
33	chr7:38283200-38283600	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:38283200-38285400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:38283200-38287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:38283400-38286800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:38283600-38289200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:38283800-38289400	Strong transcription	Dnd41	blood
39	chr7:38284000-38284200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:38284000-38285600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:38284200-38285000	Strong transcription	Fetal Thymus	thymus
42	chr7:38284200-38285800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:38284200-38287000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr7:38284400-38284800	Enhancers	K562	blood
45	chr7:38285000-38287600	Weak transcription	Fetal Thymus	thymus
46	chr7:38285400-38286400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:38285600-38286800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:38285800-38286000	Strong transcription	Primary T cells from cord blood	blood
49	chr7:38285800-38287000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:38286000-38286600	Weak transcription	Primary T cells from cord blood	blood

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