Variant report

Variant	nsv512046
Chromosome Location	chr8:47517920-47526047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
2	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
3	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
4	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:

Variant related genes	Relation type
ENSG00000248498	chromatin interactions

Extended variants
information (count: 406 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538390175	chr8:47517931-47517932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111922909	chr8:47517933-47517934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187222585	chr8:47517939-47517940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190799033	chr8:47517946-47517947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565607428	chr8:47517959-47517960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35157685	chr8:47517961-47517962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192884957	chr8:47517968-47517969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76243571	chr8:47517973-47517974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77899566	chr8:47517975-47517976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34525037	chr8:47518001-47518002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554246968	chr8:47518070-47518071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58246358	chr8:47518102-47518103	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370869859	chr8:47518189-47518190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140909403	chr8:47518191-47518192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556842804	chr8:47518266-47518267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576713065	chr8:47518290-47518291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545576914	chr8:47518303-47518304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200297656	chr8:47518371-47518372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565393664	chr8:47518387-47518388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185125635	chr8:47518395-47518396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547157810	chr8:47518442-47518443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570454139	chr8:47518457-47518458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188955472	chr8:47518480-47518481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181099837	chr8:47518483-47518484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530042120	chr8:47518485-47518486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202118224	chr8:47518524-47518525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549659019	chr8:47518576-47518577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539033012	chr8:47518589-47518590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569576087	chr8:47518603-47518604	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532193225	chr8:47518623-47518624	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4873002	chr8:47518643-47518644	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535671018	chr8:47518663-47518664	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6999856	chr8:47518685-47518686	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534404962	chr8:47518690-47518691	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554591393	chr8:47518702-47518703	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567959836	chr8:47518715-47518716	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536999512	chr8:47518729-47518730	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556904241	chr8:47518740-47518741	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576776189	chr8:47518761-47518762	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112234626	chr8:47518764-47518765	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1969449	chr8:47518772-47518773	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184055120	chr8:47518776-47518777	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199858406	chr8:47518825-47518826	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117017254	chr8:47518849-47518850	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188104028	chr8:47518852-47518853	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140622828	chr8:47518868-47518869	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543380819	chr8:47518885-47518886	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563267263	chr8:47518917-47518918	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146667024	chr8:47518929-47518930	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555186034	chr8:47518946-47518947	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47514200-47518600	Weak transcription	K562	blood
2	chr8:47518600-47520200	Strong transcription	K562	blood
3	chr8:47520200-47525800	Weak transcription	K562	blood
4	chr8:47525800-47526000	Genic enhancers	K562	blood
5	chr8:47526000-47526200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links