Variant report

Variant	esv3362373
Chromosome Location	chr6:163529230-163529595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529911721	chr6:163529241-163529242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537327	chr6:163529269-163529270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192907508	chr6:163529302-163529303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185117554	chr6:163529305-163529306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190449656	chr6:163529314-163529315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534031395	chr6:163529333-163529334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369777621	chr6:163529363-163529364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564010533	chr6:163529366-163529367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533034746	chr6:163529367-163529368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181793828	chr6:163529396-163529397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528887997	chr6:163529425-163529426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77175128	chr6:163529432-163529433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71008135	chr6:163529448-163529449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570849612	chr6:163529451-163529452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12204263	chr6:163529454-163529455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531755887	chr6:163529471-163529472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371568323	chr6:163529479-163529480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143529245	chr6:163529486-163529487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377623095	chr6:163529499-163529500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148071010	chr6:163529522-163529523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571197964	chr6:163529543-163529544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141784252	chr6:163529563-163529564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76558471	chr6:163529590-163529591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556457527	chr6:163529591-163529592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76409908	chr6:163529592-163529593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163520200-163534800	Weak transcription	Left Ventricle	heart
2	chr6:163520800-163531000	Weak transcription	Fetal Heart	heart
3	chr6:163521000-163531400	Weak transcription	Right Ventricle	heart

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