Variant report

Variant	esv3330520
Chromosome Location	chr12:10677735-10679833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150697674	chr12:10678003-10678004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560530741	chr12:10678013-10678014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11053839	chr12:10678038-10678039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs566386958	chr12:10678067-10678068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143344823	chr12:10678113-10678114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572152585	chr12:10678114-10678115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574643813	chr12:10678141-10678142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145898022	chr12:10678156-10678157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373790888	chr12:10678157-10678158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73264198	chr12:10678170-10678171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563613427	chr12:10678182-10678183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577198933	chr12:10678194-10678195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370915804	chr12:10678195-10678196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200337370	chr12:10678202-10678203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66963926	chr12:10678207-10678208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71051505	chr12:10678208-10678209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545864126	chr12:10678210-10678211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559840565	chr12:10678211-10678212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528575117	chr12:10678212-10678213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538725004	chr12:10678214-10678215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28706116	chr12:10678216-10678217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558375196	chr12:10678218-10678219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561875446	chr12:10678230-10678231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28537389	chr12:10678232-10678233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182645229	chr12:10678239-10678240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575755145	chr12:10678244-10678245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188835943	chr12:10678250-10678251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28579144	chr12:10678252-10678253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539453408	chr12:10678262-10678263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544494693	chr12:10678266-10678267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193224745	chr12:10678273-10678274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11053840	chr12:10678274-10678275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369446661	chr12:10678278-10678279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11053841	chr12:10678285-10678286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs199541549	chr12:10678286-10678287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369390386	chr12:10678299-10678300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200444842	chr12:10678304-10678305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142761366	chr12:10678312-10678313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557268747	chr12:10678320-10678321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201443477	chr12:10678325-10678326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11053842	chr12:10678341-10678342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11053843	chr12:10678342-10678343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573152153	chr12:10678348-10678349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34406152	chr12:10678349-10678350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542360394	chr12:10678354-10678355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139584804	chr12:10678361-10678362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35224902	chr12:10678374-10678375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199727339	chr12:10678375-10678376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139663824	chr12:10678381-10678382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562138078	chr12:10678382-10678383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10678000-10680800	Weak transcription	Fetal Intestine Small	intestine

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