Variant report

Variant	esv2499778
Chromosome Location	chr6:54638523-54639967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562122914	chr6:54638524-54638525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531542268	chr6:54638551-54638552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79397074	chr6:54638594-54638595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143746097	chr6:54638606-54638607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569895613	chr6:54638629-54638630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527488985	chr6:54638641-54638642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79004704	chr6:54638642-54638643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547579358	chr6:54638671-54638672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377655923	chr6:54638685-54638686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147206450	chr6:54638772-54638773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138837778	chr6:54638831-54638832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75270429	chr6:54638839-54638840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6909269	chr6:54638866-54638867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538201023	chr6:54638877-54638878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78291556	chr6:54638906-54638907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9349730	chr6:54638916-54638917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187356769	chr6:54638986-54638987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552445910	chr6:54638989-54638990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6913881	chr6:54638991-54638992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576561185	chr6:54639005-54639006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191831031	chr6:54639017-54639018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562186709	chr6:54639066-54639067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150770599	chr6:54639101-54639102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184070233	chr6:54639150-54639151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370033547	chr6:54639199-54639200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562030099	chr6:54639215-54639216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534678679	chr6:54639237-54639238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139802654	chr6:54639279-54639280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386701324	chr6:54639293-54639294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58096511	chr6:54639295-54639296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114389641	chr6:54639305-54639306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370531884	chr6:54639330-54639331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538249885	chr6:54639396-54639397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116021895	chr6:54639419-54639420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139482736	chr6:54639428-54639429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73448032	chr6:54639448-54639449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553980118	chr6:54639449-54639450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550245663	chr6:54639511-54639512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73742826	chr6:54639533-54639534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187514215	chr6:54639538-54639539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144512200	chr6:54639542-54639543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191497216	chr6:54639579-54639580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35399777	chr6:54639652-54639653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397699002	chr6:54639661-54639662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561504704	chr6:54639717-54639718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572338934	chr6:54639725-54639726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115565052	chr6:54639759-54639760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182609675	chr6:54639766-54639767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376003454	chr6:54639780-54639781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533162544	chr6:54639781-54639782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Prostate cancer	18632612	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
Breast cancer	21785460	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54637000-54640400	Weak transcription	Fetal Heart	heart

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