Variant report

Variant	nsv442994
Chromosome Location	chr6:87409805-87411116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566843131	chr6:87409810-87409811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560967456	chr6:87409858-87409859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145834855	chr6:87409866-87409867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369323892	chr6:87409884-87409885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553221030	chr6:87409885-87409886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189735861	chr6:87409910-87409911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181610603	chr6:87409920-87409921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560478061	chr6:87409931-87409932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377463950	chr6:87409938-87409939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575423379	chr6:87409941-87409942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545896990	chr6:87409977-87409978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374188664	chr6:87409991-87409992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs671837	chr6:87410024-87410025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528090098	chr6:87410025-87410026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371261988	chr6:87410049-87410050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76678578	chr6:87410076-87410077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56139705	chr6:87410082-87410083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528045140	chr6:87410101-87410102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142908653	chr6:87410108-87410109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146582479	chr6:87410114-87410115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533284886	chr6:87410121-87410122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571320141	chr6:87410123-87410124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141290305	chr6:87410179-87410180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534206923	chr6:87410286-87410287	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112450490	chr6:87410294-87410295	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568383592	chr6:87410347-87410348	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145016864	chr6:87410374-87410375	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540191229	chr6:87410391-87410392	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55851952	chr6:87410414-87410415	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118070768	chr6:87410486-87410487	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575486161	chr6:87410498-87410499	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559998891	chr6:87410513-87410514	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545970519	chr6:87410533-87410534	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189034913	chr6:87410571-87410572	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572813148	chr6:87410592-87410593	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540228778	chr6:87410706-87410707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561499299	chr6:87410709-87410710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182077186	chr6:87410721-87410722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376783161	chr6:87410736-87410737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532543957	chr6:87410753-87410754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533339323	chr6:87410783-87410784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56210634	chr6:87410790-87410791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372735464	chr6:87410809-87410810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149037991	chr6:87410817-87410818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376409177	chr6:87410823-87410824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551641967	chr6:87410841-87410842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532076970	chr6:87410866-87410867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs116731829	chr6:87410882-87410883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549370645	chr6:87410885-87410886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112218273	chr6:87410908-87410909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	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
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
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
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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	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
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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87409600-87410600	Enhancers	K562	blood
3	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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