Variant report

Variant	esv3388746
Chromosome Location	chr3:83016462-83020660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141914081	chr3:83020404-83020405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534096404	chr3:83020408-83020409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553965635	chr3:83020412-83020413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573749430	chr3:83020416-83020417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544333021	chr3:83020427-83020428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375707860	chr3:83020433-83020434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556278949	chr3:83020437-83020438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561413155	chr3:83020448-83020449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34672435	chr3:83020466-83020467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576024115	chr3:83020469-83020470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202125537	chr3:83020495-83020496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369523246	chr3:83020496-83020497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372922576	chr3:83020497-83020498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374913555	chr3:83020500-83020501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376631404	chr3:83020502-83020503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369120927	chr3:83020505-83020506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370765584	chr3:83020507-83020508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56921092	chr3:83020510-83020511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373134029	chr3:83020511-83020512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376028221	chr3:83020513-83020514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563402919	chr3:83020521-83020522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531994345	chr3:83020522-83020523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552163817	chr3:83020553-83020554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368860052	chr3:83020557-83020558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185922443	chr3:83020583-83020584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574620733	chr3:83020597-83020598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547543652	chr3:83020620-83020621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567510215	chr3:83020625-83020626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536494407	chr3:83020646-83020647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371287927	chr3:83020655-83020656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83020400-83023000	Weak transcription	Psoas Muscle	Psoas

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