Variant report

Variant	esv3490040
Chromosome Location	chr3:140208753-140209082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373919799	chr3:140208763-140208764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367780068	chr3:140208764-140208765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141679894	chr3:140208765-140208766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542941730	chr3:140208781-140208782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545098316	chr3:140208796-140208797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199573013	chr3:140208847-140208848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145476726	chr3:140208853-140208854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141013180	chr3:140208934-140208935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573236725	chr3:140208939-140208940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375232041	chr3:140208960-140208961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71619382	chr3:140208961-140208962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71619383	chr3:140208963-140208964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370043641	chr3:140208965-140208966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373505652	chr3:140208967-140208968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192592614	chr3:140208977-140208978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550433143	chr3:140209003-140209004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540724815	chr3:140209074-140209075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140192200-140219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:140208600-140209200	Weak transcription	HSMM	muscle
3	chr3:140208600-140211600	Weak transcription	HSMMtube	muscle

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