Variant report

Variant	nsv526284
Chromosome Location	chr6:55473294-55486126
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	chr6:55482089..55482741-chr6:55750008..55750560,2	MCF-7	breast:
2	chr6:55481775..55483073-chr6:55750730..55751770,11	MCF-7	breast:

Extended variants
information (count: 324 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11754509	chr6:55473294-55473295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs576828811	chr6:55473305-55473306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11759233	chr6:55473342-55473343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556410969	chr6:55473354-55473355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74296565	chr6:55473356-55473357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541986232	chr6:55473359-55473360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201703614	chr6:55473398-55473399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561754562	chr6:55473406-55473407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572070828	chr6:55473429-55473430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142829958	chr6:55473442-55473443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35491253	chr6:55473497-55473498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569355426	chr6:55473509-55473510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73446440	chr6:55473529-55473530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564025361	chr6:55473547-55473548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532955848	chr6:55473580-55473581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549843090	chr6:55473589-55473590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139000845	chr6:55473591-55473592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531941494	chr6:55473622-55473623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548737709	chr6:55473685-55473686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535347792	chr6:55473687-55473688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527769477	chr6:55473777-55473778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568578714	chr6:55473803-55473804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114442332	chr6:55473804-55473805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552948283	chr6:55473812-55473813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62404295	chr6:55473820-55473821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76296325	chr6:55473858-55473859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556311229	chr6:55473862-55473863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76114578	chr6:55473884-55473885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143324735	chr6:55473886-55473887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147523694	chr6:55473887-55473888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184990859	chr6:55473893-55473894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572274459	chr6:55473903-55473904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188608518	chr6:55473931-55473932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56144619	chr6:55473968-55473969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577849644	chr6:55473987-55473988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78676462	chr6:55474025-55474026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374483108	chr6:55474033-55474034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563161722	chr6:55474097-55474098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531999585	chr6:55474115-55474116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114267181	chr6:55474136-55474137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562450275	chr6:55474140-55474141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181642064	chr6:55474147-55474148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547616122	chr6:55474188-55474189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570590521	chr6:55474194-55474195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148151886	chr6:55474259-55474260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557327285	chr6:55474277-55474278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550113486	chr6:55474295-55474296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569957819	chr6:55474312-55474313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141939453	chr6:55474373-55474374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367582851	chr6:55474384-55474385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55463600-55474600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:55466200-55473600	Weak transcription	Pancreas	Pancrea
3	chr6:55472400-55474600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:55473600-55474000	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:55473600-55474400	Enhancers	Pancreas	Pancrea
6	chr6:55479400-55504000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:55483600-55484000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:55483600-55484200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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