Variant report

Variant	nsv520545
Chromosome Location	chr2:11031548-11031788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11029760..11031704-chr2:11031926..11033974,2	MCF-7	breast:
2	chr2:11021400..11025709-chr2:11030144..11033378,3	MCF-7	breast:
3	chr2:11021272..11023587-chr2:11030045..11031855,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 60 )

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	rs7586618	chr2:11031548-11031549	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540538465	chr2:11031569-11031570	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7572911	chr2:11031571-11031572	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143936886	chr2:11031624-11031625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1882647	chr2:11031699-11031700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569691733	chr2:11031721-11031722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375507407	chr2:11031722-11031723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543489581	chr2:11031752-11031753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372583455	chr2:11031760-11031761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549055927	chr2:11031761-11031762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1882646	chr2:11031788-11031789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11018400-11034600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11026200-11034400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:11028000-11033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:11029000-11031800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:11029400-11031600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:11030000-11031800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:11030200-11031800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11030600-11031600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:11030800-11031600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:11031000-11032000	Enhancers	Right Atrium	heart
11	chr2:11031200-11031800	Enhancers	Fetal Brain Male	brain
12	chr2:11031200-11044800	Weak transcription	Right Ventricle	heart
13	chr2:11031400-11032000	Enhancers	Fetal Brain Female	brain
14	chr2:11031600-11031800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:11031600-11032000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:11031600-11034800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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