Variant report

Variant	esv3484841
Chromosome Location	chr12:29280178-29280626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 62 )

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	rs566956875	chr12:29280181-29280182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534333334	chr12:29280210-29280211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549486238	chr12:29280247-29280248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567693799	chr12:29280255-29280256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146749951	chr12:29280259-29280260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140357661	chr12:29280261-29280262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113449859	chr12:29280307-29280308	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs7305066	chr12:29280360-29280361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554118112	chr12:29280361-29280362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572296331	chr12:29280387-29280388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542348546	chr12:29280399-29280400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560626337	chr12:29280402-29280403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575652216	chr12:29280404-29280405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57570752	chr12:29280448-29280449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565192010	chr12:29280473-29280474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181970537	chr12:29280479-29280480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547664075	chr12:29280480-29280481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559623655	chr12:29280486-29280487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550972996	chr12:29280487-29280488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372459738	chr12:29280547-29280548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375741142	chr12:29280548-29280549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370925529	chr12:29280549-29280550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374496977	chr12:29280550-29280551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562793903	chr12:29280600-29280601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559189795	chr12:29280618-29280619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187431706	chr12:29280619-29280620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374632993	chr12:29280622-29280623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372543746	chr12:29280623-29280624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29266400-29286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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