Variant report

Variant	esv17967
Chromosome Location	chr6:71860706-71862638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1935799	chr6:71860711-71860712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570380196	chr6:71860713-71860714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550763962	chr6:71860729-71860730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188877470	chr6:71860747-71860748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537773112	chr6:71860748-71860749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193072267	chr6:71860775-71860776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569116809	chr6:71860777-71860778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574777254	chr6:71860789-71860790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1935798	chr6:71860810-71860811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1935797	chr6:71860851-71860852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183293925	chr6:71860858-71860859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564683023	chr6:71860872-71860873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566536552	chr6:71860933-71860934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77561729	chr6:71860984-71860985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543788118	chr6:71860999-71861000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562489119	chr6:71861010-71861011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529695519	chr6:71861123-71861124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548263062	chr6:71861133-71861134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141458549	chr6:71861151-71861152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533802477	chr6:71861180-71861181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1418679	chr6:71861182-71861183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570341644	chr6:71861183-71861184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577474247	chr6:71861205-71861206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1418680	chr6:71861246-71861247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1418681	chr6:71861285-71861286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568441412	chr6:71861301-71861302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6930158	chr6:71861319-71861320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554215905	chr6:71861333-71861334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532474020	chr6:71861402-71861403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572535330	chr6:71861439-71861440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546337848	chr6:71861472-71861473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138823480	chr6:71861517-71861518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71538470	chr6:71861521-71861522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs70990351	chr6:71861536-71861537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201520583	chr6:71861537-71861538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558358138	chr6:71861571-71861572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77650562	chr6:71861581-71861582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188737898	chr6:71861592-71861593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191630938	chr6:71861608-71861609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562290577	chr6:71861641-71861642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542004160	chr6:71861657-71861658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560229361	chr6:71861689-71861690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574286265	chr6:71861725-71861726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150891092	chr6:71861736-71861737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559739442	chr6:71861784-71861785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114745605	chr6:71861797-71861798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184216651	chr6:71861803-71861804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117853228	chr6:71861804-71861805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565748758	chr6:71861831-71861832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563932535	chr6:71861854-71861855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71856400-71863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:71861600-71862000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:71861600-71862000	Enhancers	Brain Anterior Caudate	brain
4	chr6:71861800-71862000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:71861800-71862000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:71861800-71862000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:71861800-71862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:71862000-71863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:71862000-71868000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:71862600-71863600	Weak transcription	H1 Cell Line	embryonic stem cell

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