Variant report

Variant	esv3360476
Chromosome Location	chr5:120125543-120126059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR16-1	chr5:120125649-120126473	XLOC_004528

Variant related genes	Relation type
PSIP1	miRNA target sites

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11447428	chr5:120125602-120125603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs66768629	chr5:120125603-120125604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9327164	chr5:120125623-120125624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576854727	chr5:120125719-120125720	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557185220	chr5:120125742-120125743	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189220206	chr5:120125753-120125754	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556136488	chr5:120125838-120125839	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs569455319	chr5:120125842-120125843	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs541933106	chr5:120125846-120125847	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373113706	chr5:120125875-120125876	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs560020546	chr5:120125877-120125878	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs527465872	chr5:120125878-120125879	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs545631629	chr5:120125894-120125895	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs192169296	chr5:120125907-120125908	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564034879	chr5:120125916-120125917	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531505649	chr5:120125922-120125923	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs34670092	chr5:120125969-120125970	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs549866662	chr5:120125973-120125974	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs539609997	chr5:120125981-120125982	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568455875	chr5:120125983-120125984	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120125600-120126000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:120125600-120126000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:120125600-120126400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:120125800-120126200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:120125800-120126200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:120125800-120126200	Active TSS	NHDF-Ad	bronchial
7	chr5:120125800-120126400	Enhancers	Fetal Lung	lung
8	chr5:120125800-120126400	Active TSS	NHLF	lung

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