Variant report

Variant	esv3386590
Chromosome Location	chr2:40172697-40172944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35421039	chr2:40172698-40172699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184026973	chr2:40172711-40172712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199838612	chr2:40172722-40172723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570453314	chr2:40172750-40172751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537976746	chr2:40172789-40172790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367555662	chr2:40172796-40172797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557575172	chr2:40172801-40172802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371837799	chr2:40172819-40172820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575874691	chr2:40172840-40172841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139244053	chr2:40172857-40172858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570698372	chr2:40172868-40172869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62137255	chr2:40172869-40172870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75330863	chr2:40172873-40172874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376831717	chr2:40172905-40172906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369680531	chr2:40172912-40172913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188608900	chr2:40172913-40172914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554907659	chr2:40172918-40172919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373678509	chr2:40172922-40172923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40165000-40175800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40165600-40175200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40170000-40174600	Weak transcription	NH-A	brain
4	chr2:40170600-40173600	Weak transcription	Dnd41	blood
5	chr2:40170600-40173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:40170600-40174200	Weak transcription	NHDF-Ad	bronchial
7	chr2:40170600-40174400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:40170600-40174400	Weak transcription	HSMM	muscle
9	chr2:40170600-40174400	Weak transcription	Osteobl	bone
10	chr2:40170800-40174600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40172200-40174400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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