Variant report

Variant	esv3462227
Chromosome Location	chr3:100306674-100307146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185329626	chr3:100306715-100306716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376355661	chr3:100306761-100306762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190190152	chr3:100306767-100306768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369304068	chr3:100306771-100306772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201933755	chr3:100306782-100306783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540182266	chr3:100306811-100306812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561535000	chr3:100306815-100306816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529084468	chr3:100306819-100306820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372469097	chr3:100306820-100306821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546803681	chr3:100306841-100306842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182620489	chr3:100306863-100306864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11920936	chr3:100306914-100306915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565839521	chr3:100306917-100306918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566757154	chr3:100306947-100306948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534496559	chr3:100306990-100306991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80116455	chr3:100307045-100307046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201633018	chr3:100307070-100307071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369533288	chr3:100307088-100307089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190934492	chr3:100307096-100307097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58823251	chr3:100307136-100307137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100276800-100309200	Weak transcription	NH-A	brain
2	chr3:100298600-100309000	Weak transcription	Pancreas	Pancrea
3	chr3:100300600-100309200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:100301600-100309000	Weak transcription	Osteobl	bone
5	chr3:100304200-100309200	Weak transcription	Fetal Stomach	stomach
6	chr3:100305000-100309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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