Variant report

Variant	nsv980574
Chromosome Location	chr5:93861420-93865377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572611778	chr5:93861469-93861470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533734847	chr5:93861495-93861496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368021312	chr5:93861683-93861684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185420991	chr5:93861687-93861688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554758540	chr5:93861796-93861797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568510495	chr5:93861873-93861874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138218923	chr5:93862000-93862001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564059306	chr5:93862064-93862065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368591723	chr5:93862077-93862078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2881466	chr5:93862092-93862093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562197093	chr5:93862149-93862150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546190088	chr5:93862177-93862178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567342866	chr5:93862221-93862222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537592153	chr5:93862235-93862236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142734607	chr5:93862272-93862273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528617010	chr5:93862299-93862300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111317774	chr5:93862317-93862318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146064371	chr5:93862398-93862399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188791310	chr5:93862399-93862400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11953050	chr5:93862414-93862415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140042321	chr5:93862420-93862421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531018725	chr5:93862423-93862424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550802133	chr5:93862428-93862429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73145060	chr5:93862498-93862499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570763842	chr5:93862499-93862500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539022514	chr5:93862500-93862501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546211564	chr5:93862509-93862510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368175497	chr5:93862538-93862539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556155563	chr5:93862588-93862589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374281301	chr5:93862603-93862604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78161757	chr5:93862633-93862634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555071623	chr5:93862654-93862655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567842810	chr5:93862719-93862720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577556420	chr5:93862775-93862776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76122390	chr5:93862838-93862839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77889253	chr5:93862840-93862841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77186219	chr5:93862841-93862842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80037773	chr5:93862842-93862843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148557521	chr5:93862856-93862857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537693230	chr5:93862892-93862893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372393352	chr5:93862916-93862917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192059146	chr5:93862941-93862942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1839852	chr5:93862964-93862965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs1839851	chr5:93862991-93862992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559799264	chr5:93863066-93863067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566765309	chr5:93863083-93863084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539009102	chr5:93863121-93863122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573514323	chr5:93863127-93863128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542317852	chr5:93863206-93863207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76625703	chr5:93863268-93863269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93849400-93872400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:93854800-93874800	Weak transcription	Liver	Liver
3	chr5:93855400-93886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:93856200-93882600	Weak transcription	Ovary	ovary
5	chr5:93858400-93867800	Weak transcription	Fetal Lung	lung
6	chr5:93858600-93863000	Enhancers	Hela-S3	cervix
7	chr5:93860800-93861600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:93860800-93863000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:93862000-93862200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:93862200-93862800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:93862800-93863000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:93863000-93864200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:93864200-93864400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links