Variant report

Variant	nsv527965
Chromosome Location	chr5:27401935-27418887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
2	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
2	lnc-CDH9-2	chr5:27412713-27412768	XLOC_004761
3	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
4	lnc-CDH9-2	chr5:27412713-27412796	XLOC_004761
5	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
6	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
7	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
8	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
9	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
10	lnc-CDH9-2	chr5:27412720-27412796	XLOC_004761
11	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
12	lnc-CDH9-2	chr5:27412775-27412796	XLOC_004761

No data

Variant related genes	Relation type
YWHAQ	miRNA target sites
CHEK1	miRNA target sites

Extended variants
information (count: 138 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184796541	chr5:27402657-27402658	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189482314	chr5:27402660-27402661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540957229	chr5:27402683-27402684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs75696581	chr5:27402760-27402761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548105802	chr5:27402792-27402793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559806065	chr5:27402830-27402831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566210918	chr5:27402858-27402859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538618038	chr5:27402919-27402920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536267611	chr5:27402931-27402932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547831049	chr5:27402975-27402976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569778156	chr5:27402976-27402977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181504925	chr5:27402994-27402995	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142983424	chr5:27403051-27403052	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577138341	chr5:27403072-27403073	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185253753	chr5:27403097-27403098	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534501993	chr5:27403170-27403171	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150531212	chr5:27403196-27403197	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190182987	chr5:27403204-27403205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139537270	chr5:27403214-27403215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181223979	chr5:27403225-27403226	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186501917	chr5:27403234-27403235	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189591627	chr5:27403250-27403251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558641060	chr5:27403264-27403265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149665217	chr5:27403313-27403314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532759160	chr5:27403337-27403338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115339515	chr5:27403361-27403362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78960114	chr5:27403389-27403390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529536597	chr5:27403408-27403409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542707935	chr5:27403457-27403458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563009351	chr5:27403464-27403465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144417044	chr5:27403471-27403472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs180837140	chr5:27403472-27403473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533628254	chr5:27403483-27403484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116666392	chr5:27403513-27403514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551531508	chr5:27403515-27403516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569705563	chr5:27403550-27403551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537024425	chr5:27403571-27403572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552335924	chr5:27403588-27403589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570526511	chr5:27403638-27403639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534838124	chr5:27403662-27403663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186087177	chr5:27403671-27403672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373861097	chr5:27403691-27403692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574684472	chr5:27403705-27403706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535422135	chr5:27403707-27403708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs34030385	chr5:27403720-27403721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556831472	chr5:27403776-27403777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148404970	chr5:27403834-27403835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543380786	chr5:27403860-27403861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2446702	chr5:27403934-27403935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369591944	chr5:27403948-27403949	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27402600-27404200	Active TSS	A549	lung
2	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
4	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
5	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
8	chr5:27403400-27404000	Active TSS	HMEC	breast
9	chr5:27403400-27404000	Active TSS	Osteobl	bone
10	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:27417800-27418200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links