Variant report

Variant	esv17337
Chromosome Location	chr5:16974643-16978522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373945274	chr5:16974645-16974646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545628317	chr5:16974680-16974681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183439049	chr5:16974723-16974724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186950439	chr5:16974727-16974728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554358733	chr5:16974805-16974806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192094315	chr5:16974831-16974832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370879042	chr5:16974856-16974857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376362487	chr5:16974867-16974868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146768819	chr5:16974868-16974869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77163689	chr5:16974880-16974881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77555537	chr5:16974882-16974883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565134664	chr5:16974949-16974950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532350306	chr5:16974963-16974964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186757636	chr5:16975026-16975027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79021356	chr5:16975037-16975038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562680056	chr5:16975069-16975070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529785192	chr5:16975082-16975083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547871036	chr5:16975130-16975131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10059183	chr5:16975191-16975192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191368134	chr5:16975254-16975255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527254624	chr5:16975255-16975256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182095459	chr5:16975298-16975299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187053372	chr5:16975353-16975354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76297573	chr5:16975361-16975362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531759008	chr5:16975371-16975372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566728375	chr5:16975429-16975430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192826633	chr5:16975464-16975465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569426697	chr5:16975480-16975481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536791301	chr5:16975515-16975516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555052575	chr5:16975518-16975519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573281651	chr5:16975537-16975538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540594766	chr5:16975565-16975566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117970431	chr5:16975576-16975577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565224010	chr5:16975600-16975601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544478774	chr5:16975683-16975684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532261012	chr5:16975701-16975702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562581735	chr5:16975740-16975741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529834901	chr5:16975774-16975775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547200202	chr5:16975825-16975826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541535781	chr5:16975918-16975919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565504209	chr5:16975928-16975929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559782676	chr5:16976014-16976015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148068905	chr5:16976051-16976052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551784347	chr5:16976062-16976063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570414045	chr5:16976077-16976078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547912130	chr5:16976094-16976095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141774175	chr5:16976115-16976116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113709178	chr5:16976182-16976183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73066866	chr5:16976183-16976184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536800612	chr5:16976187-16976188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	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
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16970600-16975000	Weak transcription	Right Atrium	heart
2	chr5:16971000-16983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:16971800-16976200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:16972400-16976000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:16973800-16976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:16974600-16975600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:16975800-16977000	Enhancers	GM12878-XiMat	blood
8	chr5:16976000-16977000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:16976000-16977000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:16976200-16977000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:16976400-16977000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:16977000-16980600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:16977000-16982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:16977000-16983200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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