Variant report

Variant	nsv327670
Chromosome Location	chr5:17078843-17085787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17072245..17074328-chr5:17081355..17083029,2	MCF-7	breast:
2	chr5:17068695..17071363-chr5:17076784..17079484,2	MCF-7	breast:

Extended variants
information (count: 332 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:332 , 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	rs34560919	chr5:17078854-17078855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55954489	chr5:17078855-17078856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534017027	chr5:17078887-17078888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539957387	chr5:17078956-17078957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577188125	chr5:17078967-17078968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79823287	chr5:17078995-17078996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562453992	chr5:17079022-17079023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547481350	chr5:17079048-17079049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574382364	chr5:17079090-17079091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111503181	chr5:17079104-17079105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191963663	chr5:17079111-17079112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11749939	chr5:17079114-17079115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559894371	chr5:17079140-17079141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537759559	chr5:17079143-17079144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527418856	chr5:17079157-17079158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185562819	chr5:17079186-17079187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565481529	chr5:17079201-17079202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143619592	chr5:17079214-17079215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531212705	chr5:17079237-17079238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190469833	chr5:17079250-17079251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181034709	chr5:17079296-17079297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536921860	chr5:17079309-17079310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548831769	chr5:17079361-17079362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138181622	chr5:17079367-17079368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143649044	chr5:17079384-17079385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534125268	chr5:17079391-17079392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368773648	chr5:17079392-17079393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558784699	chr5:17079403-17079404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374149928	chr5:17079413-17079414	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371312287	chr5:17079481-17079482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557959075	chr5:17079498-17079499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556136214	chr5:17079500-17079501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574420609	chr5:17079521-17079522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116708877	chr5:17079552-17079553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184447832	chr5:17079580-17079581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113667095	chr5:17079624-17079625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572025942	chr5:17079650-17079651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114844962	chr5:17079667-17079668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35309085	chr5:17079671-17079672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545938922	chr5:17079718-17079719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564064894	chr5:17079725-17079726	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531429827	chr5:17079786-17079787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs543467473	chr5:17079789-17079790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368843938	chr5:17079824-17079825	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561648935	chr5:17079857-17079858	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528859497	chr5:17079858-17079859	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114528263	chr5:17079882-17079883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567106577	chr5:17079899-17079900	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371908412	chr5:17079903-17079904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138735083	chr5:17079973-17079974	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17070600-17079800	Weak transcription	Gastric	stomach
2	chr5:17070600-17080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:17075000-17079400	Enhancers	HUVEC	blood vessel
4	chr5:17075800-17081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:17076800-17079800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:17076800-17079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:17076800-17079800	Weak transcription	Fetal Kidney	kidney
8	chr5:17077800-17079600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:17078200-17079600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:17078200-17079800	Weak transcription	Ovary	ovary
11	chr5:17078400-17079400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:17078400-17079800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:17078400-17080000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:17078400-17080000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:17078400-17080000	Weak transcription	NHDF-Ad	bronchial
16	chr5:17079400-17080200	Enhancers	NHEK	skin
17	chr5:17079400-17080400	Flanking Active TSS	HUVEC	blood vessel
18	chr5:17079600-17079800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:17079600-17080200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:17079600-17080400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:17079800-17080000	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:17079800-17080000	Enhancers	Fetal Kidney	kidney
23	chr5:17079800-17080000	Enhancers	Gastric	stomach
24	chr5:17079800-17080000	Flanking Active TSS	Ovary	ovary
25	chr5:17079800-17080200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:17079800-17080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:17079800-17080200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:17079800-17080200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:17079800-17080200	Enhancers	HMEC	breast
30	chr5:17079800-17082200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:17080000-17080200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:17080000-17080200	Enhancers	Adipose Nuclei	Adipose
33	chr5:17080000-17080200	Active TSS	Ovary	ovary
34	chr5:17080000-17081200	Weak transcription	Fetal Kidney	kidney
35	chr5:17080000-17081600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:17080000-17082200	Enhancers	NHDF-Ad	bronchial
37	chr5:17080200-17080400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:17080400-17081400	Enhancers	A549	lung
39	chr5:17080400-17081600	Enhancers	HUVEC	blood vessel
40	chr5:17080600-17081200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:17081000-17081400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:17081000-17081400	Enhancers	Fetal Muscle Trunk	muscle
43	chr5:17081000-17081400	Enhancers	Lung	lung
44	chr5:17081200-17081400	Enhancers	Fetal Kidney	kidney
45	chr5:17081200-17081400	Enhancers	Ovary	ovary
46	chr5:17081400-17086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:17081600-17081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:17081800-17082200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:17082200-17087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:17082200-17090000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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