Variant report

Variant	esv3324813
Chromosome Location	chr3:134293362-134295360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KY-1	chr3:134294594-134295076	XLOC_003262

Variant related genes	Relation type
RAB11A	miRNA target sites

Extended variants
information (count: 66 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75524197	chr3:134293379-134293380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531590594	chr3:134293387-134293388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143768196	chr3:134293398-134293399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115646668	chr3:134293419-134293420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559172792	chr3:134293436-134293437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527819398	chr3:134293459-134293460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149945936	chr3:134293485-134293486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536336651	chr3:134293500-134293501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567732061	chr3:134293516-134293517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555931329	chr3:134293541-134293542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536263769	chr3:134293592-134293593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569610558	chr3:134293593-134293594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538967869	chr3:134293615-134293616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4586863	chr3:134293619-134293620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188876152	chr3:134293659-134293660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374940086	chr3:134293707-134293708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141929605	chr3:134293809-134293810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369137644	chr3:134293820-134293821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13081057	chr3:134293828-134293829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558921451	chr3:134293837-134293838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373554913	chr3:134293885-134293886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145741135	chr3:134293905-134293906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553466696	chr3:134293919-134293920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573364298	chr3:134293960-134293961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542263978	chr3:134293970-134293971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373940245	chr3:134294001-134294002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71620532	chr3:134294056-134294057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60571957	chr3:134294057-134294058	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs573579608	chr3:134294060-134294061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368383946	chr3:134294079-134294080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372030201	chr3:134294083-134294084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554742684	chr3:134294167-134294168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147806489	chr3:134294191-134294192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373929339	chr3:134294203-134294204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112858673	chr3:134294231-134294232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113184646	chr3:134294235-134294236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77003735	chr3:134294292-134294293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141017737	chr3:134294303-134294304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188393496	chr3:134294314-134294315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67983303	chr3:134294335-134294336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142615757	chr3:134294339-134294340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369042798	chr3:134294383-134294384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576301646	chr3:134294422-134294423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545270702	chr3:134294478-134294479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10804632	chr3:134294501-134294502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs527501700	chr3:134294581-134294582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541190394	chr3:134294626-134294627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs12492584	chr3:134294639-134294640	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs56899746	chr3:134294653-134294654	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs530161044	chr3:134294682-134294683	Weak transcription	lncRNA	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
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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134269800-134296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:134281600-134297600	Weak transcription	Gastric	stomach
3	chr3:134283400-134297200	Weak transcription	Brain Angular Gyrus	brain
4	chr3:134293000-134293400	Enhancers	Fetal Brain Female	brain
5	chr3:134293000-134293400	Enhancers	Fetal Lung	lung
6	chr3:134293000-134293600	Enhancers	Fetal Brain Male	brain
7	chr3:134293400-134297200	Weak transcription	Fetal Brain Female	brain
8	chr3:134294800-134296200	Enhancers	Fetal Intestine Small	intestine
9	chr3:134295000-134296000	Enhancers	Fetal Kidney	kidney
10	chr3:134295000-134296200	Enhancers	Fetal Intestine Large	intestine

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