Variant report

Variant	nsv1032887
Chromosome Location	chr5:58678623-58690251
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	chr5:58685562..58686590-chr5:58792342..58793267,6	MCF-7	breast:
2	chr5:58685998..58686505-chr5:58956311..58957192,2	MCF-7	breast:

Extended variants
information (count: 474 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59579741	chr5:58678669-58678670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543838815	chr5:58678670-58678671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60956928	chr5:58678717-58678718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532667548	chr5:58678767-58678768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs244592	chr5:58678768-58678769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186543846	chr5:58678827-58678828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12186492	chr5:58678829-58678830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191910099	chr5:58678881-58678882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568464870	chr5:58678925-58678926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144962268	chr5:58678969-58678970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs244593	chr5:58679020-58679021	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72767759	chr5:58679021-58679022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527693337	chr5:58679081-58679082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181226203	chr5:58679089-58679090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6889851	chr5:58679100-58679101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372098289	chr5:58679141-58679142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200280392	chr5:58679143-58679144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572220993	chr5:58679153-58679154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs244594	chr5:58679155-58679156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13181967	chr5:58679167-58679168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554894711	chr5:58679173-58679174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13181969	chr5:58679176-58679177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138831263	chr5:58679178-58679179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543431643	chr5:58679205-58679206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56083601	chr5:58679288-58679289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142653703	chr5:58679289-58679290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577184162	chr5:58679294-58679295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546238718	chr5:58679323-58679324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559426884	chr5:58679338-58679339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185877305	chr5:58679375-58679376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189751763	chr5:58679410-58679411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs165940	chr5:58679484-58679485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs244595	chr5:58679525-58679526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs244596	chr5:58679534-58679535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144929719	chr5:58679557-58679558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56306408	chr5:58679567-58679568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552297186	chr5:58679581-58679582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs244597	chr5:58679617-58679618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376241043	chr5:58679627-58679628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370502561	chr5:58679653-58679654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2702363	chr5:58679668-58679669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554831352	chr5:58679713-58679714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182410384	chr5:58679743-58679744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62358055	chr5:58679783-58679784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372282284	chr5:58679821-58679822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199894795	chr5:58679825-58679826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs611540	chr5:58679827-58679828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs611541	chr5:58679828-58679829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545842464	chr5:58679865-58679866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79626256	chr5:58679898-58679899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
3	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58675400-58681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:58676400-58681600	Enhancers	A549	lung
6	chr5:58676400-58686200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:58678000-58683000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:58678200-58679200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:58678400-58681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58679000-58679400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:58679000-58679400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:58679200-58679400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:58680000-58680200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:58681000-58681200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:58681400-58681800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:58681400-58681800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58681400-58682000	Enhancers	Psoas Muscle	Psoas
18	chr5:58681600-58681800	Flanking Active TSS	A549	lung
19	chr5:58681600-58681800	Bivalent Enhancer	HSMMtube	muscle
20	chr5:58681600-58682400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:58681600-58682800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:58681800-58683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58681800-58683400	Enhancers	A549	lung
24	chr5:58682000-58711800	Weak transcription	Psoas Muscle	Psoas
25	chr5:58682800-58683200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:58683000-58683200	Enhancers	Fetal Intestine Small	intestine
27	chr5:58683000-58684400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:58683200-58686200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:58683400-58684000	Weak transcription	A549	lung
30	chr5:58683600-58684000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:58683800-58691600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:58684000-58684600	Genic enhancers	A549	lung
33	chr5:58684400-58697600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:58684600-58686400	Weak transcription	A549	lung
35	chr5:58685400-58685800	Enhancers	Fetal Heart	heart
36	chr5:58686200-58686800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:58686200-58687000	Enhancers	Fetal Lung	lung
38	chr5:58686200-58687600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:58686400-58687600	Enhancers	A549	lung
40	chr5:58686600-58687400	Enhancers	Fetal Brain Male	brain
41	chr5:58686800-58687400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:58686800-58687600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:58687200-58687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:58687400-58687600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:58687400-58689800	Weak transcription	Fetal Brain Male	brain
46	chr5:58687600-58688600	Weak transcription	A549	lung
47	chr5:58688600-58688800	Genic enhancers	A549	lung
48	chr5:58688800-58690200	Strong transcription	A549	lung
49	chr5:58689200-58689400	Enhancers	Fetal Brain Female	brain
50	chr5:58689400-58689800	Weak transcription	Fetal Brain Female	brain

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