Variant report

Variant	esv3409876
Chromosome Location	chr3:109733992-109734256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs775536	chr3:109734051-109734052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73853121	chr3:109734070-109734071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566847735	chr3:109734105-109734106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs775537	chr3:109734157-109734158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186178543	chr3:109734194-109734195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569583656	chr3:109734252-109734253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553334319	chr3:109734256-109734257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109733000-109734000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:109733200-109735000	Weak transcription	Fetal Heart	heart
3	chr3:109733400-109735800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr3:109733600-109735000	Enhancers	Hela-S3	cervix
5	chr3:109733600-109736000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:109734000-109735200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:109734000-109735400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:109734000-109735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:109734000-109735600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:109734000-109737200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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