Variant report

Variant	esv2765
Chromosome Location	chr3:99037374-99037908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191826865	chr3:99037379-99037380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199740264	chr3:99037455-99037456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200718031	chr3:99037456-99037457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551256884	chr3:99037687-99037688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201856409	chr3:99037755-99037756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199820706	chr3:99037756-99037757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201342742	chr3:99037757-99037758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184064679	chr3:99037832-99037833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9818711	chr3:99037859-99037860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143068048	chr3:99037870-99037871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564482360	chr3:99037889-99037890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9831801	chr3:99037897-99037898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99032000-99038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:99032000-99049200	Weak transcription	Aorta	Aorta
3	chr3:99033000-99038400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:99034600-99040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:99034800-99038200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:99034800-99040200	Enhancers	NHDF-Ad	bronchial
7	chr3:99035000-99038000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:99035600-99038800	Enhancers	NHLF	lung
9	chr3:99035800-99037400	Enhancers	Fetal Stomach	stomach
10	chr3:99036600-99039800	Enhancers	Osteobl	bone
11	chr3:99036800-99038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:99036800-99040600	Enhancers	HUVEC	blood vessel
13	chr3:99037000-99039000	Enhancers	HSMM	muscle
14	chr3:99037000-99039000	Enhancers	NH-A	brain
15	chr3:99037200-99037600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:99037200-99037800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:99037400-99037800	Weak transcription	Fetal Stomach	stomach
18	chr3:99037600-99038200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:99037800-99038000	Enhancers	Fetal Stomach	stomach
20	chr3:99037800-99039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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