Variant report

Variant	esv3340782
Chromosome Location	chr6:86424133-86428531
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	chr6:86384594..86386978-chr6:86426748..86429729,2	K562	blood:
2	chr6:86428090..86430325-chr6:86430593..86434856,4	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550522218	chr6:86424845-86424846	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs143147947	chr6:86424863-86424864	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539541595	chr6:86424871-86424872	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558257923	chr6:86424875-86424876	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570538223	chr6:86424887-86424888	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186568294	chr6:86424894-86424895	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191570245	chr6:86424928-86424929	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373149685	chr6:86424955-86424956	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552911184	chr6:86425030-86425031	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574735965	chr6:86425117-86425118	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9342045	chr6:86425148-86425149	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147477361	chr6:86425151-86425152	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575342055	chr6:86425154-86425155	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545567396	chr6:86425178-86425179	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79452758	chr6:86425274-86425275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545207418	chr6:86425308-86425309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145344809	chr6:86425310-86425311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183800255	chr6:86425329-86425330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147852700	chr6:86425333-86425334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186367719	chr6:86425348-86425349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79642582	chr6:86425388-86425389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530841617	chr6:86425418-86425419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569045249	chr6:86425458-86425459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551500575	chr6:86425482-86425483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148468694	chr6:86425488-86425489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567854304	chr6:86425492-86425493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534034551	chr6:86425530-86425531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546730595	chr6:86425547-86425548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568300455	chr6:86425594-86425595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535743122	chr6:86425614-86425615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190915653	chr6:86425636-86425637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557328870	chr6:86425692-86425693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34997664	chr6:86425701-86425702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183443282	chr6:86425794-86425795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79928818	chr6:86425819-86425820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557472295	chr6:86425869-86425870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142626848	chr6:86425874-86425875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186628470	chr6:86425875-86425876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192715955	chr6:86426013-86426014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573923114	chr6:86426018-86426019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553578880	chr6:86426065-86426066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73485500	chr6:86426129-86426130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562806922	chr6:86426173-86426174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533477496	chr6:86426188-86426189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199785403	chr6:86426191-86426192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202037832	chr6:86426275-86426276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111629903	chr6:86426276-86426277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60288575	chr6:86426277-86426278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58218011	chr6:86426283-86426284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560292870	chr6:86426307-86426308	Weak transcription	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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86424800-86425000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:86424800-86425000	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr6:86425000-86425200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:86425200-86425600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:86425200-86425600	Enhancers	Dnd41	blood
6	chr6:86425200-86437200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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