Variant report

Variant	esv3484018
Chromosome Location	chr12:20884967-20885834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564878525	chr12:20884995-20884996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530460700	chr12:20885008-20885009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551251689	chr12:20885051-20885052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112576575	chr12:20885093-20885094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530423254	chr12:20885102-20885103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372280302	chr12:20885113-20885114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150005751	chr12:20885131-20885132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117439483	chr12:20885146-20885147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7297532	chr12:20885167-20885168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1913820	chr12:20885269-20885270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116736795	chr12:20885280-20885281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181033387	chr12:20885295-20885296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1913821	chr12:20885314-20885315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573559100	chr12:20885329-20885330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7297751	chr12:20885345-20885346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145257373	chr12:20885359-20885360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368929373	chr12:20885406-20885407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371860455	chr12:20885408-20885409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572731570	chr12:20885410-20885411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545074627	chr12:20885418-20885419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558412083	chr12:20885425-20885426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11045419	chr12:20885438-20885439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12299576	chr12:20885440-20885441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149184496	chr12:20885441-20885442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142404832	chr12:20885556-20885557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540955121	chr12:20885571-20885572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184455909	chr12:20885583-20885584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147945793	chr12:20885589-20885590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1913822	chr12:20885637-20885638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1913823	chr12:20885641-20885642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189329944	chr12:20885650-20885651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548256337	chr12:20885766-20885767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181776890	chr12:20885790-20885791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78703268	chr12:20885831-20885832	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20884800-20885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:20885400-20885800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:20885800-20886600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links