Variant report

Variant	esv3344446
Chromosome Location	chr7:13109881-13110346
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	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 84 )

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	rs574815999	chr7:13109933-13109934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540558281	chr7:13109939-13109940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373058713	chr7:13109940-13109941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560456282	chr7:13109944-13109945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573283905	chr7:13109948-13109949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545027634	chr7:13109953-13109954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148191436	chr7:13109957-13109958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530900865	chr7:13109960-13109961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10258968	chr7:13109964-13109965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561166081	chr7:13109968-13109969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530197364	chr7:13109969-13109970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374095948	chr7:13109972-13109973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546898540	chr7:13109976-13109977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199684097	chr7:13109980-13109981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368008979	chr7:13109981-13109982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10258978	chr7:13109988-13109989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544653263	chr7:13109989-13109990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538672095	chr7:13109992-13109993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370573168	chr7:13109996-13109997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201743799	chr7:13109998-13109999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373538064	chr7:13110000-13110001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551874779	chr7:13110001-13110002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147192800	chr7:13110005-13110006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377671882	chr7:13110012-13110013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111400839	chr7:13110013-13110014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568966176	chr7:13110016-13110017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186774487	chr7:13110020-13110021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537524371	chr7:13110024-13110025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554678340	chr7:13110025-13110026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149742399	chr7:13110029-13110030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533936691	chr7:13110032-13110033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201262582	chr7:13110036-13110037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529933054	chr7:13110037-13110038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577060058	chr7:13110040-13110041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373704957	chr7:13110044-13110045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558664729	chr7:13110048-13110049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575565019	chr7:13110049-13110050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13240588	chr7:13110052-13110053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13226385	chr7:13110053-13110054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544393800	chr7:13110056-13110057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370865482	chr7:13110058-13110059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13226214	chr7:13110060-13110061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13226122	chr7:13110061-13110062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561005533	chr7:13110064-13110065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199615100	chr7:13110065-13110066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199827500	chr7:13110066-13110067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10259287	chr7:13110068-13110069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202038655	chr7:13110069-13110070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397515689	chr7:13110072-13110073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146567153	chr7:13110073-13110074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
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
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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