Variant report

Variant	esv3417107
Chromosome Location	chr5:9472102-9474800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371364629	chr5:9472112-9472113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376061626	chr5:9472178-9472179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191381856	chr5:9472180-9472181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563222567	chr5:9472217-9472218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558673198	chr5:9472254-9472255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180694881	chr5:9472263-9472264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540792830	chr5:9472308-9472309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568274678	chr5:9472359-9472360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs268509	chr5:9472365-9472366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533465404	chr5:9472433-9472434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16882864	chr5:9472509-9472510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543258610	chr5:9472516-9472517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562892400	chr5:9472529-9472530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551522601	chr5:9472554-9472555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531581985	chr5:9472578-9472579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35862742	chr5:9472600-9472601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186000632	chr5:9472616-9472617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146016465	chr5:9472659-9472660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114651963	chr5:9472703-9472704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373829694	chr5:9472747-9472748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397733046	chr5:9472750-9472751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10075555	chr5:9472753-9472754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs268510	chr5:9472806-9472807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190761214	chr5:9472876-9472877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201196433	chr5:9472913-9472914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs268511	chr5:9472943-9472944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148670502	chr5:9472952-9472953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200132289	chr5:9472997-9472998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538618716	chr5:9473096-9473097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112842151	chr5:9473097-9473098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146553838	chr5:9473180-9473181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13175369	chr5:9473225-9473226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3031503	chr5:9473232-9473233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60668596	chr5:9473236-9473237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397758428	chr5:9473237-9473238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11749044	chr5:9473238-9473239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71613317	chr5:9473239-9473240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372991269	chr5:9473252-9473253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61636060	chr5:9473254-9473255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11748390	chr5:9473260-9473261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77408457	chr5:9473301-9473302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34546257	chr5:9473331-9473332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565697718	chr5:9473338-9473339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187869626	chr5:9473367-9473368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2387707	chr5:9473426-9473427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200789470	chr5:9473494-9473495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375160174	chr5:9473495-9473496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112476585	chr5:9473496-9473497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2458363	chr5:9473503-9473504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58137756	chr5:9473516-9473517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9437400-9477800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:9464800-9477400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:9465000-9477600	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:9468000-9473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:9468000-9477600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:9468400-9473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:9468400-9477200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:9468600-9473600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:9468600-9473600	Weak transcription	NHDF-Ad	bronchial
10	chr5:9468600-9483000	Weak transcription	NHLF	lung
11	chr5:9468800-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:9469000-9474200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:9469200-9479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:9470000-9473600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:9470200-9472200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:9470400-9476600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:9470600-9482400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:9471000-9473200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:9471200-9475400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:9471200-9477000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:9471400-9473600	Weak transcription	Left Ventricle	heart
22	chr5:9471400-9473800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:9471400-9478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:9471400-9480800	Weak transcription	Right Ventricle	heart
25	chr5:9471600-9473600	Weak transcription	Fetal Heart	heart
26	chr5:9471600-9473800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:9472200-9472400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:9472200-9473000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:9472400-9472600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:9472400-9472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:9472400-9472800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:9472800-9473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:9472800-9476600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:9473000-9473400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:9473200-9473600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:9473400-9474200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:9473600-9474000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:9473600-9474200	Enhancers	Left Ventricle	heart
39	chr5:9473600-9474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:9473600-9474400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:9473600-9474400	Enhancers	Fetal Heart	heart
42	chr5:9473600-9475000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:9473600-9475000	Enhancers	NHDF-Ad	bronchial
44	chr5:9473800-9474000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:9473800-9474000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:9473800-9474000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:9473800-9475000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:9474000-9474200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:9474000-9475000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:9474000-9477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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