Variant report

Variant	esv3432338
Chromosome Location	chr6:114237709-114239857
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	chr6:114234076..114236200-chr6:114237531..114240425,2	K562	blood:
2	chr6:114239524..114241632-chr6:114242865..114244629,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-1	chr6:114238107-114238216	ENSG00000175967.3
2	lnc-MARCKS-1	chr6:114238107-114238216	XLOC_005438

Extended variants
information (count: 85 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139323464	chr6:114237730-114237731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577338061	chr6:114237743-114237744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541278984	chr6:114237881-114237882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577474	chr6:114237883-114237884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556327292	chr6:114237895-114237896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574594992	chr6:114237913-114237914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577580	chr6:114237919-114237920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373831941	chr6:114237948-114237949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563333883	chr6:114237960-114237961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530845928	chr6:114237979-114237980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550029438	chr6:114237996-114237997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565055827	chr6:114238008-114238009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4569996	chr6:114238048-114238049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185307721	chr6:114238122-114238123	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs547624412	chr6:114238157-114238158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs116970775	chr6:114238169-114238170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs536340092	chr6:114238173-114238174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548336290	chr6:114238185-114238186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs190155425	chr6:114238339-114238340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201862281	chr6:114238366-114238367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201364960	chr6:114238433-114238434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536668388	chr6:114238451-114238452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117302267	chr6:114238463-114238464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577475655	chr6:114238481-114238482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199577068	chr6:114238498-114238499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112049245	chr6:114238499-114238500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372392452	chr6:114238567-114238568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192785238	chr6:114238574-114238575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9481407	chr6:114238580-114238581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146619627	chr6:114238587-114238588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200622959	chr6:114238602-114238603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58474727	chr6:114238604-114238605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66778401	chr6:114238605-114238606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71025085	chr6:114238607-114238608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13217541	chr6:114238608-114238609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13201246	chr6:114238614-114238615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13217548	chr6:114238620-114238621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13201255	chr6:114238639-114238640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373139630	chr6:114238644-114238645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13201261	chr6:114238645-114238646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574731615	chr6:114238652-114238653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188165071	chr6:114238653-114238654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5027730	chr6:114238658-114238659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28585472	chr6:114238684-114238685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28521672	chr6:114238697-114238698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13217697	chr6:114238767-114238768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543139	chr6:114238865-114238866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530523754	chr6:114238913-114238914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575568648	chr6:114238932-114238933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545894764	chr6:114238937-114238938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
3	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart

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