Variant report

Variant	esv3384076
Chromosome Location	chr5:5318326-5318816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368647294	chr5:5318330-5318331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114190883	chr5:5318335-5318336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551309276	chr5:5318338-5318339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35220882	chr5:5318340-5318341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571263521	chr5:5318345-5318346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200916127	chr5:5318365-5318366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149219536	chr5:5318402-5318403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142483378	chr5:5318414-5318415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118017379	chr5:5318415-5318416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200279933	chr5:5318427-5318428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374514945	chr5:5318444-5318445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191448236	chr5:5318471-5318472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575889108	chr5:5318480-5318481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545012838	chr5:5318490-5318491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565275234	chr5:5318491-5318492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141790895	chr5:5318497-5318498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542026081	chr5:5318511-5318512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368606054	chr5:5318521-5318522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571972575	chr5:5318558-5318559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561354108	chr5:5318559-5318560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530331457	chr5:5318573-5318574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6885895	chr5:5318581-5318582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76403531	chr5:5318668-5318669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532813014	chr5:5318674-5318675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67273745	chr5:5318766-5318767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571201533	chr5:5318789-5318790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
Pleomorphic liposarcoma	18784837	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
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5305600-5319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5305600-5326200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:5305800-5321400	Weak transcription	Fetal Kidney	kidney
4	chr5:5311400-5324800	Weak transcription	Ovary	ovary
5	chr5:5312200-5320000	Enhancers	Fetal Muscle Leg	muscle
6	chr5:5313800-5319400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:5314400-5318600	Weak transcription	Pancreas	Pancrea
8	chr5:5314400-5319000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:5314400-5326200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5315200-5325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:5315600-5318400	Enhancers	Psoas Muscle	Psoas
12	chr5:5317000-5318600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:5317200-5318400	Weak transcription	NH-A	brain
14	chr5:5317200-5318800	Weak transcription	HSMM	muscle
15	chr5:5317200-5320000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:5317400-5318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:5317400-5318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:5317400-5320000	Enhancers	HSMMtube	muscle
19	chr5:5317600-5319600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:5317800-5319000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:5317800-5320000	Enhancers	Fetal Muscle Trunk	muscle
22	chr5:5318000-5318400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:5318000-5318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:5318000-5320000	Enhancers	Fetal Brain Male	brain
25	chr5:5318200-5318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:5318200-5318400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:5318200-5319400	Enhancers	Fetal Brain Female	brain
28	chr5:5318200-5319800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:5318400-5319200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:5318400-5319400	Weak transcription	Psoas Muscle	Psoas
31	chr5:5318400-5319800	Enhancers	NH-A	brain
32	chr5:5318400-5324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:5318400-5325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:5318600-5319400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:5318600-5319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:5318600-5319600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:5318800-5319400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:5318800-5319600	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:5318800-5319800	Enhancers	HSMM	muscle

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