Variant report

Variant	nsv508361
Chromosome Location	chr5:59336428-59365985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 494 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:494 , 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	rs547783519	chr5:59336440-59336441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376980273	chr5:59336516-59336517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13185333	chr5:59336525-59336526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552230943	chr5:59336537-59336538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78419998	chr5:59336592-59336593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13167173	chr5:59336607-59336608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112278371	chr5:59336612-59336613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146525718	chr5:59336645-59336646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139106235	chr5:59336651-59336652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189889626	chr5:59336770-59336771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557931083	chr5:59336791-59336792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576201635	chr5:59336838-59336839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182576121	chr5:59336867-59336868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141669601	chr5:59336868-59336869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188929357	chr5:59337007-59337008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577492019	chr5:59337108-59337109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576276588	chr5:59337143-59337144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201522819	chr5:59337144-59337145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546444006	chr5:59337156-59337157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537226553	chr5:59337167-59337168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193124259	chr5:59337187-59337188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76732015	chr5:59337188-59337189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572117747	chr5:59337215-59337216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540624846	chr5:59337298-59337299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371471685	chr5:59337323-59337324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115482828	chr5:59337336-59337337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560934640	chr5:59337359-59337360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529695304	chr5:59337363-59337364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549646691	chr5:59337380-59337381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185206438	chr5:59337390-59337391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187638632	chr5:59337419-59337420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551969649	chr5:59337428-59337429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191755780	chr5:59337434-59337435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115434693	chr5:59337476-59337477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147024325	chr5:59337527-59337528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568428985	chr5:59337541-59337542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377360826	chr5:59337667-59337668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370758730	chr5:59337668-59337669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374283878	chr5:59337678-59337679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184340305	chr5:59337710-59337711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13189870	chr5:59337719-59337720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs67016280	chr5:59337733-59337734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188692904	chr5:59337753-59337754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540001648	chr5:59337764-59337765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553610063	chr5:59337798-59337799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180703185	chr5:59337805-59337806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541109225	chr5:59337825-59337826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545131880	chr5:59337829-59337830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560850287	chr5:59337842-59337843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574350938	chr5:59337960-59337961	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
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
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
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59333200-59337800	Weak transcription	Stomach Mucosa	stomach
2	chr5:59336200-59336600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr5:59337400-59338000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:59337600-59338000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:59337600-59338000	Enhancers	Lung	lung
6	chr5:59337800-59338000	Enhancers	Gastric	stomach
7	chr5:59337800-59338200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:59337800-59338400	Enhancers	Stomach Mucosa	stomach
9	chr5:59349600-59349800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr5:59349800-59352200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:59350600-59351000	Enhancers	Fetal Brain Male	brain
12	chr5:59350800-59351600	Enhancers	Stomach Mucosa	stomach
13	chr5:59351000-59351400	Weak transcription	Fetal Brain Male	brain
14	chr5:59351400-59353200	Enhancers	Fetal Brain Male	brain
15	chr5:59352000-59352400	Enhancers	Small Intestine	intestine
16	chr5:59352200-59352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:59353200-59353400	Enhancers	Stomach Mucosa	stomach
18	chr5:59353200-59354800	Weak transcription	Fetal Brain Male	brain
19	chr5:59354800-59355200	Enhancers	Fetal Brain Male	brain
20	chr5:59355000-59355600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:59355200-59355800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:59355200-59359400	Weak transcription	Fetal Brain Male	brain
23	chr5:59355800-59359800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:59356200-59356600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:59362200-59363200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:59362200-59363200	Enhancers	NH-A	brain
27	chr5:59362400-59362800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:59362600-59363200	Enhancers	Hela-S3	cervix

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