Variant report

Variant	nsv881705
Chromosome Location	chr5:58668669-58745872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:58737750..58739829-chr5:58740466..58743523,3	MCF-7	breast:
2	chr5:58514307..58514912-chr5:58675986..58677121,4	MCF-7	breast:
3	chr5:58657123..58657869-chr5:58676349..58676935,2	MCF-7	breast:
4	chr5:58685562..58686590-chr5:58792342..58793267,6	MCF-7	breast:
5	chr5:58484022..58484971-chr5:58675909..58676491,2	MCF-7	breast:
6	chr5:58709583..58712076-chr5:58713537..58715588,2	MCF-7	breast:
7	chr5:58484203..58484779-chr5:58676055..58676926,3	MCF-7	breast:
8	chr5:58737750..58739829-chr5:58740466..58743523,3	MCF-7	breast:
9	chr5:58709583..58712076-chr5:58713537..58715588,2	MCF-7	breast:
10	chr5:58685998..58686505-chr5:58956311..58957192,2	MCF-7	breast:

No data

Extended variants
information (count: 3014 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3014 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs154027	chr5:58668669-58668670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146273664	chr5:58668692-58668693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568798500	chr5:58668745-58668746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537778076	chr5:58668807-58668808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192829573	chr5:58668830-58668831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35836561	chr5:58668838-58668839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201728535	chr5:58668842-58668843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371056410	chr5:58668848-58668849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386688399	chr5:58668969-58668970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386688400	chr5:58668970-58668971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79127148	chr5:58668971-58668972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574098793	chr5:58669009-58669010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184777553	chr5:58669038-58669039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556822538	chr5:58669052-58669053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144104027	chr5:58669053-58669054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187851184	chr5:58669058-58669059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs154025	chr5:58669087-58669088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72767746	chr5:58669103-58669104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534123989	chr5:58669107-58669108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1598740	chr5:58669120-58669121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372290011	chr5:58669122-58669123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543684643	chr5:58669136-58669137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370098379	chr5:58669137-58669138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531410497	chr5:58669145-58669146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61021367	chr5:58669177-58669178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192482198	chr5:58669179-58669180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528986354	chr5:58669296-58669297	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185624994	chr5:58669301-58669302	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568684399	chr5:58669318-58669319	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531420689	chr5:58669341-58669342	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543298754	chr5:58669377-58669378	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571673928	chr5:58669386-58669387	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189577013	chr5:58669395-58669396	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538630400	chr5:58669397-58669398	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145960093	chr5:58669402-58669403	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542691409	chr5:58669473-58669474	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553919533	chr5:58669512-58669513	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372117218	chr5:58669520-58669521	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567725667	chr5:58669577-58669578	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557446356	chr5:58669613-58669614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371471383	chr5:58669622-58669623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181988864	chr5:58669662-58669663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536714555	chr5:58669670-58669671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184405104	chr5:58669757-58669758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576668253	chr5:58669814-58669815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545617879	chr5:58669820-58669821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73093002	chr5:58669835-58669836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189114846	chr5:58669893-58669894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181107783	chr5:58669949-58669950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148632097	chr5:58669970-58669971	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:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58660600-58669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
4	chr5:58667600-58669200	Enhancers	A549	lung
5	chr5:58668000-58676200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:58668400-58668800	Enhancers	Pancreas	Pancrea
7	chr5:58668800-58675600	Weak transcription	Pancreas	Pancrea
8	chr5:58669200-58669400	Flanking Active TSS	A549	lung
9	chr5:58669400-58669600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr5:58669400-58670000	Enhancers	A549	lung
11	chr5:58670000-58670800	Weak transcription	A549	lung
12	chr5:58670800-58671000	ZNF genes & repeats	A549	lung
13	chr5:58671000-58676200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
15	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:58673600-58674200	ZNF genes & repeats	A549	lung
17	chr5:58673800-58677400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:58674200-58674400	Weak transcription	A549	lung
19	chr5:58674400-58676000	Genic enhancers	A549	lung
20	chr5:58674600-58675000	Enhancers	Fetal Brain Male	brain
21	chr5:58674800-58675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:58674800-58675200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:58674800-58676800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:58675000-58676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:58675000-58677400	Weak transcription	Fetal Brain Male	brain
26	chr5:58675400-58681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:58675800-58676800	Enhancers	Hela-S3	cervix
28	chr5:58676000-58676200	Enhancers	A549	lung
29	chr5:58676000-58676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:58676000-58676400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:58676200-58676400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:58676200-58676400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:58676200-58676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:58676200-58676400	Enhancers	Brain Angular Gyrus	brain
35	chr5:58676200-58676400	Enhancers	Fetal Kidney	kidney
36	chr5:58676200-58676400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:58676200-58676400	Flanking Active TSS	A549	lung
38	chr5:58676200-58676400	Flanking Active TSS	NH-A	brain
39	chr5:58676200-58676400	Enhancers	NHEK	skin
40	chr5:58676200-58676600	Enhancers	Fetal Heart	heart
41	chr5:58676200-58677000	Enhancers	Colon Smooth Muscle	Colon
42	chr5:58676200-58677000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:58676200-58677000	Enhancers	Fetal Lung	lung
44	chr5:58676200-58677000	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:58676200-58678000	Enhancers	Fetal Intestine Small	intestine
46	chr5:58676200-58678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:58676200-58678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:58676400-58677400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:58676400-58681600	Enhancers	A549	lung
50	chr5:58676400-58686200	Weak transcription	Rectal Mucosa Donor 31	rectum

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