Variant report

Variant	nsv519462
Chromosome Location	chr6:23844762-23851905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12192397	chr6:23850803-23850804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187279382	chr6:23850841-23850842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190914583	chr6:23850856-23850857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12192354	chr6:23850901-23850902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527420912	chr6:23850908-23850909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557054145	chr6:23850917-23850918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551983087	chr6:23850934-23850935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575240441	chr6:23850996-23850997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182165369	chr6:23851002-23851003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570429733	chr6:23851005-23851006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1511475	chr6:23851010-23851011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557254463	chr6:23851022-23851023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569238668	chr6:23851035-23851036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12205770	chr6:23851047-23851048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554785058	chr6:23851050-23851051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573355358	chr6:23851055-23851056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540726946	chr6:23851074-23851075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376609982	chr6:23851077-23851078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187187429	chr6:23851083-23851084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147898340	chr6:23851147-23851148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369513431	chr6:23851152-23851153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562847367	chr6:23851172-23851173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34675256	chr6:23851174-23851175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113001102	chr6:23851208-23851209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571997925	chr6:23851210-23851211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190086941	chr6:23851216-23851217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113365833	chr6:23851248-23851249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542135963	chr6:23851289-23851290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1511476	chr6:23851306-23851307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562022737	chr6:23851322-23851323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377676944	chr6:23851323-23851324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527447156	chr6:23851348-23851349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552258146	chr6:23851366-23851367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376391599	chr6:23851382-23851383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566269775	chr6:23851420-23851421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563997432	chr6:23851445-23851446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531284260	chr6:23851513-23851514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573813042	chr6:23851518-23851519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148968142	chr6:23851520-23851521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375630500	chr6:23851522-23851523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567711178	chr6:23851534-23851535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182652439	chr6:23851535-23851536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548429723	chr6:23851555-23851556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372583390	chr6:23851559-23851560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188569935	chr6:23851562-23851563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370215740	chr6:23851597-23851598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553206262	chr6:23851618-23851619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534096440	chr6:23851619-23851620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57588903	chr6:23851630-23851631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202222482	chr6:23851631-23851632	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23850800-23852600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:23850800-23852600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links