Variant report

Variant	esv3439413
Chromosome Location	chr12:105296543-105296812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140411295	chr12:105296543-105296544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143577406	chr12:105296547-105296548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529362361	chr12:105296575-105296576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544488879	chr12:105296616-105296617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563570249	chr12:105296617-105296618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550814074	chr12:105296677-105296678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77679913	chr12:105296684-105296685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140465913	chr12:105296725-105296726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184596761	chr12:105296748-105296749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150399063	chr12:105296752-105296753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4644704	chr12:105296762-105296763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105275400-105297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:105284600-105309000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105290600-105297200	Weak transcription	HepG2	liver
5	chr12:105290800-105331600	Weak transcription	Gastric	stomach
6	chr12:105292000-105297600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:105293400-105302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:105293400-105310000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:105293600-105303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105293600-105321600	Weak transcription	A549	lung
11	chr12:105294400-105297200	Enhancers	Liver	Liver
12	chr12:105295600-105297200	Enhancers	Stomach Mucosa	stomach
13	chr12:105296200-105297200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:105296400-105296800	Weak transcription	Aorta	Aorta
15	chr12:105296400-105298600	Enhancers	Pancreas	Pancrea
16	chr12:105296800-105297200	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links