Variant report

Variant	nsv881703
Chromosome Location	chr5:58517918-58540847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58529142..58529735-chr6:26031124..26031817,2	Hela-S3	cervix:
2	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:
3	chr5:58517841..58518362-chr5:58663716..58664223,2	MCF-7	breast:
4	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:

Extended variants
information (count: 890 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs464787	chr5:58517918-58517919	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144411465	chr5:58517937-58517938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560122014	chr5:58517981-58517982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146564235	chr5:58518004-58518005	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577866365	chr5:58518020-58518021	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368449759	chr5:58518036-58518037	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540559180	chr5:58518039-58518040	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560282737	chr5:58518054-58518055	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529316139	chr5:58518074-58518075	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116227044	chr5:58518113-58518114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77508816	chr5:58518153-58518154	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16889392	chr5:58518169-58518170	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149171375	chr5:58518194-58518195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566447563	chr5:58518206-58518207	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571870113	chr5:58518234-58518235	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375984550	chr5:58518251-58518252	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548117678	chr5:58518253-58518254	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182582473	chr5:58518268-58518269	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143306183	chr5:58518373-58518374	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187373644	chr5:58518410-58518411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534068796	chr5:58518432-58518433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568973666	chr5:58518472-58518473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72765918	chr5:58518584-58518585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571579845	chr5:58518598-58518599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533643978	chr5:58518635-58518636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557655826	chr5:58518775-58518776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537200992	chr5:58518779-58518780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577812302	chr5:58518823-58518824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533822440	chr5:58518865-58518866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554069904	chr5:58518897-58518898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148292513	chr5:58518907-58518908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542633289	chr5:58518950-58518951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376663509	chr5:58519001-58519002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192097768	chr5:58519031-58519032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576139120	chr5:58519066-58519067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545524379	chr5:58519069-58519070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368995471	chr5:58519084-58519085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565335056	chr5:58519085-58519086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140469607	chr5:58519120-58519121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547759634	chr5:58519159-58519160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372122619	chr5:58519179-58519180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs72765919	chr5:58519190-58519191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183578987	chr5:58519211-58519212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369983379	chr5:58519257-58519258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549007126	chr5:58519319-58519320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115961728	chr5:58519349-58519350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79058801	chr5:58519370-58519371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78400048	chr5:58519409-58519410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571338348	chr5:58519433-58519434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534006489	chr5:58519604-58519605	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	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:58506400-58518200	Weak transcription	Left Ventricle	heart
6	chr5:58506400-58520400	Weak transcription	Stomach Mucosa	stomach
7	chr5:58509200-58518400	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:58509400-58518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58510400-58520000	Weak transcription	Right Ventricle	heart
10	chr5:58511800-58521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:58512800-58518200	Weak transcription	Gastric	stomach
12	chr5:58512800-58518200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
14	chr5:58513800-58518000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:58514000-58518200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58514000-58518400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:58514000-58518400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:58514000-58518800	Weak transcription	Fetal Intestine Large	intestine
19	chr5:58514200-58519200	Weak transcription	Fetal Intestine Small	intestine
20	chr5:58514800-58518200	Weak transcription	HUVEC	blood vessel
21	chr5:58516000-58519000	Enhancers	A549	lung
22	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:58516200-58518000	Weak transcription	Fetal Heart	heart
24	chr5:58516200-58518200	Weak transcription	Fetal Kidney	kidney
25	chr5:58516200-58518200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:58516200-58518800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:58516200-58519200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
29	chr5:58516600-58518000	Weak transcription	HepG2	liver
30	chr5:58517200-58519600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:58517200-58519800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:58517600-58518000	Enhancers	Stomach Smooth Muscle	stomach
33	chr5:58517800-58518000	Strong transcription	Hela-S3	cervix
34	chr5:58517800-58518400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:58517800-58518400	Enhancers	Small Intestine	intestine
36	chr5:58517800-58519000	Enhancers	Right Atrium	heart
37	chr5:58517800-58519400	Enhancers	Fetal Muscle Leg	muscle
38	chr5:58517800-58520200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:58518000-58518400	Enhancers	Fetal Heart	heart
40	chr5:58518000-58518400	Genic enhancers	Hela-S3	cervix
41	chr5:58518000-58518600	Enhancers	HepG2	liver
42	chr5:58518000-58519000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:58518000-58520400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr5:58518200-58518400	Enhancers	Fetal Muscle Trunk	muscle
45	chr5:58518200-58518800	Enhancers	HUVEC	blood vessel
46	chr5:58518200-58519000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:58518200-58519000	Enhancers	Gastric	stomach
48	chr5:58518200-58519200	Enhancers	Left Ventricle	heart
49	chr5:58518200-58519400	Enhancers	Fetal Kidney	kidney
50	chr5:58518200-58519400	Enhancers	Pancreatic Islets	Pancreatic Islet

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