Variant report

Variant	nsv969279
Chromosome Location	chr5:15256386-15259548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545066273	chr5:15256395-15256396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76903394	chr5:15256398-15256399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530863192	chr5:15256407-15256408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536929805	chr5:15256425-15256426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140967570	chr5:15256455-15256456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144781669	chr5:15256534-15256535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56217334	chr5:15256579-15256580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183889830	chr5:15256587-15256588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576702693	chr5:15256599-15256600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547585083	chr5:15256600-15256601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565877517	chr5:15256621-15256622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539543410	chr5:15256637-15256638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188666756	chr5:15256671-15256672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79534775	chr5:15256675-15256676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537365984	chr5:15256682-15256683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555978543	chr5:15256710-15256711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544040394	chr5:15256731-15256732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574160940	chr5:15256758-15256759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563675797	chr5:15256786-15256787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181488910	chr5:15256809-15256810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138428377	chr5:15256817-15256818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577837445	chr5:15256820-15256821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572145181	chr5:15256836-15256837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34183693	chr5:15256869-15256870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78713784	chr5:15256878-15256879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78653137	chr5:15256879-15256880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397738553	chr5:15256880-15256881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75613188	chr5:15256882-15256883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545106344	chr5:15256892-15256893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563290703	chr5:15256893-15256894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148854626	chr5:15256901-15256902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529619910	chr5:15256909-15256910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143517849	chr5:15256944-15256945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184477817	chr5:15256985-15256986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543052049	chr5:15256998-15256999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561219973	chr5:15257000-15257001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190379101	chr5:15257009-15257010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546437490	chr5:15257021-15257022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182212279	chr5:15257061-15257062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577282637	chr5:15257122-15257123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564717051	chr5:15257125-15257126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547383321	chr5:15257131-15257132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77635429	chr5:15257183-15257184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529183003	chr5:15257189-15257190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147976385	chr5:15257208-15257209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528814653	chr5:15257312-15257313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187213017	chr5:15257331-15257332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34454075	chr5:15257340-15257341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537411313	chr5:15257376-15257377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368162791	chr5:15257385-15257386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15250600-15259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:15254600-15256400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:15254800-15256800	Enhancers	Fetal Lung	lung
4	chr5:15255600-15260200	Weak transcription	Aorta	Aorta
5	chr5:15256200-15256400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:15256400-15259000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:15256800-15259400	Weak transcription	Fetal Lung	lung
8	chr5:15258000-15258200	Enhancers	Fetal Heart	heart
9	chr5:15258200-15259400	Weak transcription	Fetal Heart	heart
10	chr5:15259000-15262000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:15259000-15262600	Enhancers	Fetal Muscle Leg	muscle
12	chr5:15259400-15260800	Enhancers	Fetal Lung	lung
13	chr5:15259400-15262600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links