Variant report

Variant	esv3376282
Chromosome Location	chr12:20667935-20669933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572568848	chr12:20667951-20667952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566461872	chr12:20667963-20667964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538819025	chr12:20667980-20667981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558520268	chr12:20667985-20667986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35529204	chr12:20667986-20667987	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146729737	chr12:20668009-20668010	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35340841	chr12:20668012-20668013	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574507454	chr12:20668083-20668084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540260915	chr12:20668094-20668095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184598041	chr12:20668102-20668103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577511906	chr12:20668119-20668120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377352646	chr12:20668166-20668167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573097384	chr12:20668211-20668212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546330373	chr12:20668224-20668225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562950085	chr12:20668235-20668236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73233916	chr12:20668318-20668319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541939129	chr12:20668355-20668356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561872817	chr12:20668419-20668420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139364126	chr12:20668459-20668460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61912088	chr12:20668519-20668520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7487165	chr12:20668544-20668545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189162413	chr12:20668567-20668568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182056045	chr12:20668622-20668623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201502182	chr12:20668634-20668635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548450930	chr12:20668676-20668677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58454608	chr12:20668683-20668684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202217808	chr12:20668685-20668686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7133176	chr12:20668760-20668761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7954197	chr12:20668762-20668763	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537912846	chr12:20668763-20668764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370200295	chr12:20668767-20668768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575158370	chr12:20668780-20668781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7132907	chr12:20668793-20668794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7953905	chr12:20668796-20668797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7304026	chr12:20668815-20668816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7954297	chr12:20668828-20668829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112803507	chr12:20668869-20668870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111324351	chr12:20668887-20668888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181489375	chr12:20668902-20668903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368488248	chr12:20668934-20668935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577425670	chr12:20668935-20668936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546195350	chr12:20668963-20668964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556686947	chr12:20668972-20668973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200516348	chr12:20668980-20668981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576535396	chr12:20668982-20668983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542051249	chr12:20669007-20669008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546823383	chr12:20669037-20669038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186684776	chr12:20669078-20669079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34337217	chr12:20669086-20669087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191527328	chr12:20669108-20669109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20660800-20672800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20661200-20673200	Weak transcription	NHDF-Ad	bronchial
3	chr12:20662000-20670600	Weak transcription	Osteobl	bone
4	chr12:20662200-20670600	Weak transcription	Right Atrium	heart
5	chr12:20662400-20674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:20664400-20672200	Weak transcription	Left Ventricle	heart
7	chr12:20666600-20669600	Strong transcription	Hela-S3	cervix
8	chr12:20667400-20669200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:20667400-20673800	Weak transcription	A549	lung
10	chr12:20667600-20668200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:20667600-20668200	Enhancers	Aorta	Aorta
12	chr12:20667600-20680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:20668200-20673600	Weak transcription	Aorta	Aorta
14	chr12:20669200-20670200	Enhancers	Colon Smooth Muscle	Colon
15	chr12:20669600-20671800	Weak transcription	Hela-S3	cervix
16	chr12:20669800-20670000	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links