Variant report

Variant	esv3412663
Chromosome Location	chr5:68757996-68760594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57066441	chr5:68757997-68757998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560411841	chr5:68758159-68758160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28739407	chr5:68758229-68758230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145941917	chr5:68758282-68758283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552351345	chr5:68758289-68758290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183056022	chr5:68758353-68758354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531688366	chr5:68758380-68758381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550901096	chr5:68758441-68758442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569162022	chr5:68758465-68758466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373342280	chr5:68758467-68758468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536496832	chr5:68758471-68758472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548343403	chr5:68758472-68758473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60807929	chr5:68758474-68758475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533910987	chr5:68758484-68758485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187897644	chr5:68758618-68758619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191560570	chr5:68758634-68758635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537440236	chr5:68758659-68758660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556488955	chr5:68758668-68758669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183069616	chr5:68758676-68758677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542095743	chr5:68758692-68758693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532531701	chr5:68758693-68758694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71612537	chr5:68758729-68758730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71612538	chr5:68758732-68758733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377029769	chr5:68758757-68758758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572517588	chr5:68758767-68758768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546279493	chr5:68758776-68758777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538909068	chr5:68758804-68758805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202211378	chr5:68758829-68758830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369695626	chr5:68758830-68758831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564529404	chr5:68758871-68758872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28776223	chr5:68758891-68758892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374126374	chr5:68758900-68758901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550680586	chr5:68758920-68758921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569035280	chr5:68758949-68758950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12519819	chr5:68758978-68758979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12519823	chr5:68759020-68759021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554613212	chr5:68759034-68759035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62646190	chr5:68759058-68759059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12519828	chr5:68759060-68759061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12519847	chr5:68759089-68759090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12519851	chr5:68759118-68759119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12519854	chr5:68759147-68759148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537409634	chr5:68759244-68759245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199989636	chr5:68759266-68759267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188045637	chr5:68759290-68759291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192137391	chr5:68759295-68759296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184629560	chr5:68759319-68759320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35750109	chr5:68759331-68759332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201187691	chr5:68759363-68759364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201939507	chr5:68759364-68759365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	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
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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	20729466	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
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68757000-68768000	Weak transcription	Stomach Mucosa	stomach

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