Variant report

Variant	nsv604513
Chromosome Location	chr6:110570622-110571293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110563724..110566253-chr6:110569811..110571861,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140258273	chr6:110570629-110570630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112086353	chr6:110570637-110570638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552990688	chr6:110570638-110570639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60599252	chr6:110570641-110570642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572835106	chr6:110570666-110570667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149216804	chr6:110570755-110570756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189432496	chr6:110570796-110570797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192171570	chr6:110570845-110570846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2878175	chr6:110570903-110570904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543866095	chr6:110570905-110570906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114933242	chr6:110570956-110570957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529441588	chr6:110570959-110570960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549695516	chr6:110571093-110571094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9487326	chr6:110571154-110571155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528751088	chr6:110571159-110571160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551824526	chr6:110571165-110571166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571637301	chr6:110571169-110571170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376655401	chr6:110571240-110571241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537576637	chr6:110571275-110571276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4516983	chr6:110571293-110571294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110539000-110580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:110547000-110576600	Weak transcription	Pancreas	Pancrea
3	chr6:110549400-110580400	Weak transcription	Brain Angular Gyrus	brain
4	chr6:110550600-110608200	Weak transcription	Fetal Kidney	kidney
5	chr6:110554000-110571400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:110554400-110572600	Weak transcription	Aorta	Aorta
7	chr6:110555400-110570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:110556000-110571400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:110559200-110572400	Weak transcription	Liver	Liver
10	chr6:110559400-110571200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:110559400-110572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:110559400-110573400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:110564400-110571000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:110567400-110574200	Weak transcription	Fetal Stomach	stomach
15	chr6:110567400-110604600	Weak transcription	Ovary	ovary
16	chr6:110567600-110604600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:110568000-110571200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:110569800-110571400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:110570400-110571600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:110571200-110572000	Enhancers	HUES48 Cell Line	embryonic stem cell

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