Variant report

Variant	nsv824717
Chromosome Location	chr8:115450868-115460966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 367 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113637379	chr8:115450893-115450894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190377048	chr8:115450944-115450945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554285666	chr8:115450945-115450946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62543461	chr8:115450989-115450990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537146893	chr8:115451043-115451044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149576328	chr8:115451133-115451134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146566808	chr8:115451137-115451138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77698947	chr8:115451140-115451141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77882049	chr8:115451149-115451150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529729383	chr8:115451152-115451153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34029726	chr8:115451154-115451155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76823239	chr8:115451155-115451156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542164369	chr8:115451159-115451160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572249413	chr8:115451178-115451179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530905705	chr8:115451180-115451181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182564253	chr8:115451191-115451192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564323972	chr8:115451202-115451203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375580880	chr8:115451209-115451210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139231592	chr8:115451229-115451230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546810908	chr8:115451247-115451248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568704043	chr8:115451248-115451249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529572000	chr8:115451254-115451255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548121724	chr8:115451255-115451256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2019914	chr8:115451256-115451257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569599533	chr8:115451322-115451323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537136711	chr8:115451332-115451333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558722147	chr8:115451333-115451334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187216072	chr8:115451339-115451340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs290633	chr8:115451344-115451345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552899032	chr8:115451353-115451354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574626373	chr8:115451365-115451366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111693772	chr8:115451396-115451397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117798242	chr8:115451407-115451408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557314747	chr8:115451419-115451420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575269505	chr8:115451423-115451424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545869170	chr8:115451434-115451435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191653439	chr8:115451478-115451479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573017431	chr8:115451487-115451488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540782047	chr8:115451495-115451496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540258692	chr8:115451511-115451512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562146800	chr8:115451521-115451522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529588614	chr8:115451575-115451576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs290634	chr8:115451577-115451578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563261043	chr8:115451581-115451582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143257689	chr8:115451594-115451595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558003488	chr8:115451608-115451609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552226011	chr8:115451620-115451621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570520106	chr8:115451693-115451694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549827660	chr8:115451724-115451725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565210469	chr8:115451801-115451802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	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
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115448000-115461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:115450600-115451000	Enhancers	GM12878-XiMat	blood
3	chr8:115454600-115455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:115457000-115458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:115458200-115458800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:115458800-115461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links