Variant report

Variant	esv275265
Chromosome Location	chr5:119470341-119472825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558211463	chr5:119470366-119470367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138211091	chr5:119470378-119470379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192074149	chr5:119470398-119470399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553979954	chr5:119470404-119470405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574029036	chr5:119470421-119470422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375562042	chr5:119470454-119470455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184126621	chr5:119470470-119470471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141954852	chr5:119470503-119470504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573171482	chr5:119470504-119470505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565177068	chr5:119470559-119470560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145817785	chr5:119470587-119470588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189681838	chr5:119470589-119470590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560799160	chr5:119470702-119470703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192330471	chr5:119470735-119470736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561974040	chr5:119470746-119470747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138711495	chr5:119470772-119470773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538242852	chr5:119470807-119470808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558168906	chr5:119470839-119470840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6866287	chr5:119470842-119470843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs41379746	chr5:119470847-119470848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17146149	chr5:119470864-119470865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6866827	chr5:119470912-119470913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542861316	chr5:119470915-119470916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184343843	chr5:119471009-119471010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115838381	chr5:119471011-119471012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141221355	chr5:119471031-119471032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190444422	chr5:119471044-119471045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527562923	chr5:119471048-119471049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376526196	chr5:119471068-119471069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182028968	chr5:119471073-119471074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561044735	chr5:119471087-119471088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150748744	chr5:119471105-119471106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138876013	chr5:119471134-119471135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569722306	chr5:119471214-119471215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149403963	chr5:119471256-119471257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186432571	chr5:119471257-119471258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79942477	chr5:119471259-119471260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534332563	chr5:119471267-119471268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13361397	chr5:119471268-119471269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567866559	chr5:119471269-119471270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146381702	chr5:119471289-119471290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11952574	chr5:119471295-119471296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139780890	chr5:119471296-119471297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10900735	chr5:119471300-119471301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs62376994	chr5:119471307-119471308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181469875	chr5:119471327-119471328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375655263	chr5:119471358-119471359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541448899	chr5:119471361-119471362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72015082	chr5:119471371-119471372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528749926	chr5:119471377-119471378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119468600-119472000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:119469000-119473200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:119469200-119473400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:119471200-119471600	Enhancers	Ovary	ovary
5	chr5:119471400-119472000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:119471600-119473400	Weak transcription	Ovary	ovary
7	chr5:119471800-119472000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119472000-119472200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:119472000-119473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:119472200-119472600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:119472400-119474400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:119472600-119477400	Enhancers	Primary monocytes fromperipheralblood	blood

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