Variant report

Variant	nsv517556
Chromosome Location	chr5:119924532-119925692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6865072	chr5:119924532-119924533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76185573	chr5:119924589-119924590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36022042	chr5:119924620-119924621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183249120	chr5:119924624-119924625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186250723	chr5:119924629-119924630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369786851	chr5:119924635-119924636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565317602	chr5:119924643-119924644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190659613	chr5:119924663-119924664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112882298	chr5:119924742-119924743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570282132	chr5:119924750-119924751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547718622	chr5:119924758-119924759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78816785	chr5:119924773-119924774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529967094	chr5:119924795-119924796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577518696	chr5:119924808-119924809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78927790	chr5:119924819-119924820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550757161	chr5:119924877-119924878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569831309	chr5:119924887-119924888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566158227	chr5:119924998-119924999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1524565	chr5:119924999-119925000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs373240027	chr5:119925077-119925078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78798906	chr5:119925100-119925101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9327151	chr5:119925177-119925178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs59322071	chr5:119925212-119925213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371105872	chr5:119925224-119925225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573997722	chr5:119925242-119925243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536520622	chr5:119925264-119925265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556355014	chr5:119925286-119925287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2018396	chr5:119925308-119925309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148655512	chr5:119925330-119925331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2840170	chr5:119925375-119925376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572447029	chr5:119925377-119925378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2168214	chr5:119925394-119925395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561236207	chr5:119925419-119925420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76806274	chr5:119925441-119925442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551013907	chr5:119925485-119925486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111877484	chr5:119925509-119925510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112705434	chr5:119925515-119925516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371157372	chr5:119925531-119925532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532202529	chr5:119925535-119925536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569163036	chr5:119925554-119925555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74615611	chr5:119925570-119925571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182836234	chr5:119925601-119925602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142185054	chr5:119925615-119925616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547900115	chr5:119925628-119925629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6881097	chr5:119925692-119925693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119904800-119931200	Weak transcription	Osteobl	bone
2	chr5:119905000-119925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119905600-119934600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:119907800-119934800	Weak transcription	HSMM	muscle

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