Variant report

Variant	esv3330985
Chromosome Location	chr3:133279413-133279793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133279685..133281617-chr3:133285489..133287947,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66549971	chr3:133279435-133279436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188806659	chr3:133279451-133279452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575918408	chr3:133279523-133279524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544535470	chr3:133279539-133279540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563296076	chr3:133279553-133279554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138380593	chr3:133279594-133279595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148509038	chr3:133279595-133279596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150992330	chr3:133279600-133279601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376830828	chr3:133279602-133279603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140239430	chr3:133279603-133279604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369362415	chr3:133279606-133279607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111996381	chr3:133279612-133279613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568226759	chr3:133279620-133279621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548508199	chr3:133279664-133279665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550555341	chr3:133279692-133279693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562011021	chr3:133279723-133279724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538205595	chr3:133279741-133279742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62280438	chr3:133279742-133279743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539490763	chr3:133279743-133279744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552935337	chr3:133279745-133279746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573031581	chr3:133279746-133279747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138638579	chr3:133279754-133279755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181615571	chr3:133279762-133279763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141220933	chr3:133279763-133279764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544785872	chr3:133279766-133279767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532660616	chr3:133279779-133279780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377411426	chr3:133279783-133279784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115384670	chr3:133279788-133279789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150316794	chr3:133279792-133279793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Hailey-hailey disease	17597066	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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133270600-133281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:133279200-133281800	Enhancers	Placenta	Placenta

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