Variant report

Variant	esv3380942
Chromosome Location	chr7:13109277-13111275
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:
2	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs17166711	chr7:13109298-13109299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575403629	chr7:13109299-13109300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77844366	chr7:13109334-13109335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561280482	chr7:13109340-13109341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145117161	chr7:13109373-13109374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180972648	chr7:13109403-13109404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138994329	chr7:13109439-13109440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185297181	chr7:13109476-13109477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28465530	chr7:13109490-13109491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551870741	chr7:13109500-13109501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565194463	chr7:13109501-13109502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112026088	chr7:13109504-13109505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554898708	chr7:13109516-13109517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550891910	chr7:13109537-13109538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77452602	chr7:13109609-13109610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536525439	chr7:13109622-13109623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546861849	chr7:13109651-13109652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566146886	chr7:13109665-13109666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538213309	chr7:13109676-13109677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553462122	chr7:13109708-13109709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191198491	chr7:13109740-13109741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538083249	chr7:13109779-13109780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376686725	chr7:13109808-13109809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182227649	chr7:13109867-13109868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573657949	chr7:13109869-13109870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369105117	chr7:13109877-13109878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574815999	chr7:13109933-13109934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540558281	chr7:13109939-13109940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373058713	chr7:13109940-13109941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560456282	chr7:13109944-13109945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573283905	chr7:13109948-13109949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545027634	chr7:13109953-13109954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148191436	chr7:13109957-13109958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530900865	chr7:13109960-13109961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10258968	chr7:13109964-13109965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561166081	chr7:13109968-13109969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530197364	chr7:13109969-13109970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374095948	chr7:13109972-13109973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546898540	chr7:13109976-13109977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199684097	chr7:13109980-13109981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368008979	chr7:13109981-13109982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10258978	chr7:13109988-13109989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544653263	chr7:13109989-13109990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538672095	chr7:13109992-13109993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370573168	chr7:13109996-13109997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201743799	chr7:13109998-13109999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373538064	chr7:13110000-13110001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551874779	chr7:13110001-13110002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147192800	chr7:13110005-13110006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377671882	chr7:13110012-13110013	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13104400-13109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:13111200-13112200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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