Variant report

Variant	esv2292793
Chromosome Location	chr2:12007220-12007225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67774903	chr2:12007220-12007221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55851937	chr2:12007221-12007222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3037334	chr2:12007222-12007223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398104030	chr2:12007224-12007225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12000200-12007800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12003200-12009600	Weak transcription	Right Atrium	heart
3	chr2:12004200-12012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:12004400-12008200	Weak transcription	NHEK	skin
5	chr2:12004400-12012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:12004400-12012800	Weak transcription	Esophagus	oesophagus
7	chr2:12004400-12012800	Weak transcription	Stomach Mucosa	stomach
8	chr2:12004400-12015400	Weak transcription	Gastric	stomach
9	chr2:12004600-12008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:12004600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:12004600-12009600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:12004600-12010000	Weak transcription	Fetal Heart	heart
13	chr2:12004600-12012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:12004800-12007800	Weak transcription	HMEC	breast
15	chr2:12004800-12009200	Weak transcription	NH-A	brain
16	chr2:12004800-12010000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:12005000-12009600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:12005000-12009600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:12005000-12013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:12005800-12010800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:12006200-12007800	Enhancers	K562	blood
22	chr2:12006400-12008200	Weak transcription	Spleen	Spleen
23	chr2:12006400-12010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:12006800-12010800	Weak transcription	Primary B cells from cord blood	blood
25	chr2:12007000-12007600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:12007200-12007400	Enhancers	GM12878-XiMat	blood

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