Variant report

Variant	esv3464262
Chromosome Location	chr3:134660159-134660410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375853337	chr3:134660185-134660186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6799875	chr3:134660196-134660197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4100796	chr3:134660208-134660209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6763913	chr3:134660284-134660285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186110763	chr3:134660317-134660318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201844315	chr3:134660351-134660352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6764013	chr3:134660383-134660384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189864764	chr3:134660398-134660399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134650600-134660600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:134656600-134673000	Weak transcription	GM12878-XiMat	blood
3	chr3:134657800-134660800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:134658200-134669000	Weak transcription	Fetal Brain Female	brain
5	chr3:134658600-134660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:134659400-134660600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:134659400-134660800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:134659600-134661400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:134660400-134661600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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