Variant report

Variant	esv3489005
Chromosome Location	chr7:149713319-149717817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2626771	chr7:149713348-149713349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3907288	chr7:149713458-149713459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538270397	chr7:149713477-149713478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185858482	chr7:149713481-149713482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568437929	chr7:149713492-149713493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1825393	chr7:149713539-149713540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534306500	chr7:149713545-149713546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3907289	chr7:149713602-149713603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369438799	chr7:149713632-149713633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111337445	chr7:149713638-149713639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386719330	chr7:149713639-149713640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3907290	chr7:149713640-149713641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565775393	chr7:149713670-149713671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546078843	chr7:149713705-149713706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556856747	chr7:149713760-149713761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138702710	chr7:149713762-149713763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536427390	chr7:149713786-149713787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541839281	chr7:149713793-149713794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183689022	chr7:149713818-149713819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112555015	chr7:149713833-149713834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115746667	chr7:149713842-149713843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540729967	chr7:149713843-149713844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112264950	chr7:149713859-149713860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563831934	chr7:149713870-149713871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533191677	chr7:149713912-149713913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188643048	chr7:149713913-149713914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6960479	chr7:149713944-149713945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3864480	chr7:149713974-149713975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549266743	chr7:149714014-149714015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375688272	chr7:149714060-149714061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200834613	chr7:149714075-149714076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569378888	chr7:149714129-149714130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536671312	chr7:149714137-149714138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568476345	chr7:149714199-149714200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142766143	chr7:149714228-149714229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547958085	chr7:149714240-149714241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558084900	chr7:149714243-149714244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570948950	chr7:149714268-149714269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540060006	chr7:149714313-149714314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56960223	chr7:149714366-149714367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140047078	chr7:149714367-149714368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115146657	chr7:149714383-149714384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555592541	chr7:149714384-149714385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145565434	chr7:149714408-149714409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373758587	chr7:149714423-149714424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540611971	chr7:149714446-149714447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59356398	chr7:149714458-149714459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192229225	chr7:149714568-149714569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200577211	chr7:149714573-149714574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574961765	chr7:149714586-149714587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149701000-149727800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:149713400-149714400	Enhancers	Liver	Liver
3	chr7:149713400-149714400	Enhancers	Pancreas	Pancrea
4	chr7:149713600-149714200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:149714200-149714400	Enhancers	Right Atrium	heart

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