Variant report

Variant	nsv980987
Chromosome Location	chr5:92442201-92446772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554953345	chr5:92442210-92442211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374471276	chr5:92442220-92442221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574921943	chr5:92442280-92442281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564864369	chr5:92442366-92442367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543539438	chr5:92442370-92442371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367890735	chr5:92442373-92442374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563938952	chr5:92442383-92442384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532620791	chr5:92442390-92442391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545955563	chr5:92442411-92442412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187631069	chr5:92442482-92442483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559630516	chr5:92442487-92442488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528715390	chr5:92442522-92442523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547828991	chr5:92442534-92442535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560220019	chr5:92442555-92442556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532129480	chr5:92442581-92442582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192797971	chr5:92442585-92442586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184344987	chr5:92442631-92442632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550383582	chr5:92442632-92442633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570499172	chr5:92442668-92442669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539659899	chr5:92442715-92442716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553162823	chr5:92442722-92442723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144645385	chr5:92442727-92442728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1353494	chr5:92442766-92442767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs555040431	chr5:92442767-92442768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574724234	chr5:92442768-92442769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112789756	chr5:92442924-92442925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543922432	chr5:92442957-92442958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557192328	chr5:92442991-92442992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189441495	chr5:92443033-92443034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545992440	chr5:92443039-92443040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559518818	chr5:92443045-92443046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192443160	chr5:92443069-92443070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79112835	chr5:92443083-92443084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146734945	chr5:92443086-92443087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13188341	chr5:92443100-92443101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140334214	chr5:92443121-92443122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113466266	chr5:92443158-92443159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533010877	chr5:92443171-92443172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546860568	chr5:92443275-92443276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150387733	chr5:92443322-92443323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549747562	chr5:92443343-92443344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551961050	chr5:92443352-92443353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78172026	chr5:92443378-92443379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138086397	chr5:92443402-92443403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184398518	chr5:92443497-92443498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188744958	chr5:92443573-92443574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13177386	chr5:92443605-92443606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561229659	chr5:92443663-92443664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181299173	chr5:92443702-92443703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576973951	chr5:92443705-92443706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92437400-92443000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:92441800-92444000	Enhancers	Fetal Kidney	kidney
3	chr5:92442200-92444200	Enhancers	Fetal Lung	lung
4	chr5:92442200-92444200	Enhancers	Ovary	ovary
5	chr5:92442800-92443800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:92442800-92443800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:92442800-92444200	Enhancers	Adipose Nuclei	Adipose
8	chr5:92443000-92443200	Enhancers	Stomach Smooth Muscle	stomach
9	chr5:92443000-92443600	Enhancers	Colon Smooth Muscle	Colon
10	chr5:92443000-92443800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:92443000-92444200	Enhancers	Fetal Stomach	stomach
12	chr5:92443200-92444000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:92443600-92444000	Enhancers	HepG2	liver
14	chr5:92443800-92450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:92444000-92444200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:92444000-92444200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links