Variant report

Variant	esv3405393
Chromosome Location	chr12:20623386-20624049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572503650	chr12:20623483-20623484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4762759	chr12:20623529-20623530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs73241619	chr12:20623635-20623636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558824708	chr12:20623642-20623643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148477691	chr12:20623661-20623662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61427465	chr12:20623662-20623663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190877137	chr12:20623671-20623672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543586402	chr12:20623712-20623713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55848999	chr12:20623724-20623725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573745335	chr12:20623757-20623758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182657831	chr12:20623758-20623759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561657976	chr12:20623761-20623762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544385854	chr12:20623772-20623773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560675515	chr12:20623777-20623778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61912062	chr12:20623804-20623805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61912063	chr12:20623820-20623821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141146894	chr12:20623821-20623822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533033165	chr12:20623823-20623824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549947229	chr12:20623825-20623826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373945319	chr12:20623835-20623836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149719708	chr12:20623870-20623871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559854393	chr12:20623873-20623874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77832966	chr12:20623900-20623901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116371807	chr12:20623931-20623932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566383833	chr12:20623937-20623938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534870934	chr12:20623945-20623946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558313161	chr12:20623948-20623949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571775192	chr12:20623995-20623996	Weak transcription Enhancers	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20627400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:20619200-20628600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
5	chr12:20619600-20628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:20619800-20625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:20620800-20623400	Enhancers	Osteobl	bone
8	chr12:20621400-20623400	Enhancers	Adipose Nuclei	Adipose
9	chr12:20621600-20623600	Enhancers	Colon Smooth Muscle	Colon
10	chr12:20621600-20627400	Weak transcription	Fetal Intestine Small	intestine
11	chr12:20621600-20627400	Weak transcription	Pancreas	Pancrea
12	chr12:20621800-20627600	Weak transcription	Left Ventricle	heart
13	chr12:20622000-20623800	Weak transcription	Right Atrium	heart
14	chr12:20622000-20625000	Weak transcription	A549	lung
15	chr12:20622400-20624400	Weak transcription	Hela-S3	cervix
16	chr12:20622800-20623400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr12:20622800-20624800	Weak transcription	NHDF-Ad	bronchial
18	chr12:20622800-20625000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:20623000-20623400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:20623000-20624800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:20623200-20624000	Enhancers	Ovary	ovary
22	chr12:20623200-20624200	Enhancers	Fetal Muscle Leg	muscle
23	chr12:20623200-20624800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:20623200-20635200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:20623400-20623600	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:20623400-20624800	Weak transcription	Osteobl	bone
27	chr12:20623400-20628400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:20623600-20624800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:20623600-20627400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:20623800-20624000	Enhancers	Right Atrium	heart
31	chr12:20624000-20624800	Weak transcription	Ovary	ovary
32	chr12:20624000-20625400	Weak transcription	Right Atrium	heart

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