Variant report

Variant	nsv825936
Chromosome Location	chr11:59922944-59923621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536927240	chr11:59923041-59923042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12226022	chr11:59923081-59923082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577129490	chr11:59923082-59923083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534784749	chr11:59923118-59923119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532659639	chr11:59923125-59923126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10897009	chr11:59923194-59923195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574572515	chr11:59923213-59923214	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370892279	chr11:59923232-59923233	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35256294	chr11:59923249-59923250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181403345	chr11:59923270-59923271	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576707477	chr11:59923285-59923286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78763495	chr11:59923308-59923309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565209220	chr11:59923314-59923315	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186053145	chr11:59923330-59923331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548174446	chr11:59923358-59923359	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190819042	chr11:59923391-59923392	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149882384	chr11:59923477-59923478	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs983392	chr11:59923508-59923509	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
19	rs548594718	chr11:59923587-59923588	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569937248	chr11:59923599-59923600	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11820006	chr11:59923600-59923601	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79315507	chr11:59923606-59923607	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59923000-59923200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr11:59923000-59923800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:59923000-59924000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:59923200-59923400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:59923200-59923400	Enhancers	HUVEC	blood vessel
6	chr11:59923200-59924000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:59923200-59924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:59923400-59923800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:59923400-59923800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:59923400-59923800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:59923400-59923800	Enhancers	HMEC	breast
12	chr11:59923400-59923800	Flanking Active TSS	HUVEC	blood vessel
13	chr11:59923400-59924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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