Variant report

Variant	nsv880631
Chromosome Location	chr5:27379706-27432346
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:14)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
2	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
3	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
4	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
5	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
6	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
7	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
8	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
9	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
10	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
11	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
12	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
13	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
14	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27428267-27428320	XLOC_004761
2	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
3	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
4	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
5	lnc-CDH9-2	chr5:27412775-27412796	XLOC_004761
6	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
7	lnc-CDH9-2	chr5:27412713-27412768	XLOC_004761
8	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
9	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
10	lnc-CDH9-2	chr5:27423608-27423708	XLOC_004761
11	lnc-CDH9-2	chr5:27412720-27412796	XLOC_004761
12	lnc-CDH9-2	chr5:27412713-27412796	XLOC_004761
13	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
14	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761

No data

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

Extended variants
information (count: 335 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142665444	chr5:27387029-27387030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550601103	chr5:27387079-27387080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144821624	chr5:27387087-27387088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16896750	chr5:27387088-27387089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114992933	chr5:27387176-27387177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181568624	chr5:27387223-27387224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9293266	chr5:27387253-27387254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555116440	chr5:27387261-27387262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386686560	chr5:27387294-27387295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147918656	chr5:27387296-27387297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139028117	chr5:27387300-27387301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141766196	chr5:27387312-27387313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146949189	chr5:27387337-27387338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558092333	chr5:27387375-27387376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10058813	chr5:27387385-27387386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528548296	chr5:27387395-27387396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540842970	chr5:27387405-27387406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562220255	chr5:27387408-27387409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148014441	chr5:27387459-27387460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373249043	chr5:27387466-27387467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563030515	chr5:27387469-27387470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140690003	chr5:27387487-27387488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368326569	chr5:27387504-27387505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551067305	chr5:27387566-27387567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10058999	chr5:27387665-27387666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533610435	chr5:27387675-27387676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563658099	chr5:27387689-27387690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548776626	chr5:27387702-27387703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs36060325	chr5:27387706-27387707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138642058	chr5:27387708-27387709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189827824	chr5:27387721-27387722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141800591	chr5:27387743-27387744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577846109	chr5:27387769-27387770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539851428	chr5:27387795-27387796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569624795	chr5:27387810-27387811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146276147	chr5:27387841-27387842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573381022	chr5:27387842-27387843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137988246	chr5:27387852-27387853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562160676	chr5:27387986-27387987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183183982	chr5:27388052-27388053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376238728	chr5:27388064-27388065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73067906	chr5:27388089-27388090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34749693	chr5:27388114-27388115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533432211	chr5:27388152-27388153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187824091	chr5:27388177-27388178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150428233	chr5:27388186-27388187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142585090	chr5:27388196-27388197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144721795	chr5:27388204-27388205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369090059	chr5:27388234-27388235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527389014	chr5:27388243-27388244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27387000-27389200	Enhancers	HepG2	liver
2	chr5:27387400-27388200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:27387600-27388000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:27387600-27388200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:27387600-27388200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:27387600-27388200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:27387600-27388200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:27387600-27388800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:27388200-27389800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:27388600-27389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:27388800-27389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:27389200-27389600	Weak transcription	HepG2	liver
13	chr5:27389600-27390000	Enhancers	HepG2	liver
14	chr5:27389800-27390000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:27389800-27390200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:27392000-27393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:27392400-27393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:27402600-27404200	Active TSS	A549	lung
19	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
21	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
22	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
25	chr5:27403400-27404000	Active TSS	HMEC	breast
26	chr5:27403400-27404000	Active TSS	Osteobl	bone
27	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:27417800-27418200	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links