Variant report

Variant	nsv528968
Chromosome Location	chr5:9667062-9674736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:20526774..20527681-chr5:9667723..9668465,2	MCF-7	breast:
2	chr5:9663088..9664811-chr5:9665065..9667890,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10513029	chr5:9667062-9667063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566789870	chr5:9667097-9667098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376080449	chr5:9667139-9667140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145238055	chr5:9667166-9667167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568717360	chr5:9667171-9667172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537550256	chr5:9667178-9667179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557474008	chr5:9667180-9667181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185387455	chr5:9667206-9667207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546021016	chr5:9667230-9667231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553268985	chr5:9667232-9667233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573501467	chr5:9667288-9667289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370757878	chr5:9667362-9667363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567610331	chr5:9667366-9667367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528218131	chr5:9667407-9667408	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562117476	chr5:9667468-9667469	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114839496	chr5:9667473-9667474	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79897261	chr5:9667475-9667476	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16883340	chr5:9667482-9667483	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533445965	chr5:9667487-9667488	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114926692	chr5:9667535-9667536	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34585556	chr5:9667539-9667540	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150551148	chr5:9667623-9667624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139792143	chr5:9667630-9667631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149792851	chr5:9667640-9667641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568806781	chr5:9667647-9667648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537486617	chr5:9667652-9667653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115651472	chr5:9667706-9667707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145727183	chr5:9667708-9667709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533614693	chr5:9667712-9667713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140502610	chr5:9667713-9667714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563365942	chr5:9667738-9667739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578257727	chr5:9667751-9667752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144559400	chr5:9667759-9667760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs194094	chr5:9667761-9667762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs16883347	chr5:9667798-9667799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575993708	chr5:9667817-9667818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544646997	chr5:9667841-9667842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190005786	chr5:9668005-9668006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578156996	chr5:9668019-9668020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146637429	chr5:9668033-9668034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560296004	chr5:9668038-9668039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573020497	chr5:9668070-9668071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371049419	chr5:9668086-9668087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141387993	chr5:9668095-9668096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546745983	chr5:9668142-9668143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531480305	chr5:9668167-9668168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201041573	chr5:9668214-9668215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374318731	chr5:9668229-9668230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143351599	chr5:9668230-9668231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148344295	chr5:9668249-9668250	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9662600-9667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:9666800-9667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:9667400-9667600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:9667400-9667600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:9667400-9667800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:9667400-9667800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:9667400-9667800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:9667800-9668400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links