Variant report

Variant	nsv823743
Chromosome Location	chr6:76223606-76231151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76222296..76224632-chr6:76225087..76227864,2	K562	blood:
2	chr6:76228629..76230410-chr6:76233743..76235799,2	K562	blood:
3	chr6:76230814..76232317-chr6:76310930..76313052,2	MCF-7	breast:
4	chr6:76222296..76224632-chr6:76225087..76227864,2	K562	blood:

Variant related genes	Relation type
ENSG00000112701	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551923148	chr6:76225040-76225041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187805864	chr6:76225075-76225076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549948586	chr6:76225101-76225102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568441272	chr6:76225114-76225115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142516287	chr6:76225156-76225157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192624156	chr6:76225164-76225165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150580204	chr6:76225239-76225240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539613366	chr6:76225246-76225247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139640741	chr6:76225270-76225271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1932522	chr6:76225303-76225304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537138259	chr6:76225365-76225366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144387999	chr6:76225366-76225367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573534354	chr6:76225367-76225368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541342605	chr6:76225377-76225378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568615843	chr6:76225378-76225379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553275714	chr6:76225423-76225424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147833738	chr6:76225430-76225431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533850584	chr6:76225445-76225446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75098842	chr6:76225474-76225475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182258850	chr6:76225570-76225571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75368375	chr6:76225586-76225587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139970760	chr6:76225673-76225674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561951137	chr6:76225681-76225682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145397817	chr6:76225690-76225691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145251090	chr6:76225775-76225776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111980104	chr6:76225848-76225849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533428738	chr6:76225849-76225850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551726239	chr6:76225915-76225916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10943255	chr6:76225928-76225929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs34354658	chr6:76225934-76225935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62414219	chr6:76226073-76226074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567936125	chr6:76226091-76226092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536750023	chr6:76226107-76226108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1591509	chr6:76226108-76226109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567286051	chr6:76226120-76226121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534630865	chr6:76226131-76226132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552989321	chr6:76226150-76226151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74773998	chr6:76226155-76226156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149128758	chr6:76226173-76226174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538933131	chr6:76226188-76226189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539684523	chr6:76230831-76230832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566889547	chr6:76230868-76230869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77380678	chr6:76230907-76230908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527659997	chr6:76231010-76231011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552522475	chr6:76231032-76231033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572893475	chr6:76231109-76231110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571093471	chr6:76231144-76231145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76225000-76226200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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