Variant report

Variant	nsv968524
Chromosome Location	chr8:114977678-114984643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1511701	chr8:114977733-114977734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548136896	chr8:114977789-114977790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529432692	chr8:114977823-114977824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181557735	chr8:114977832-114977833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77098879	chr8:114977850-114977851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558798842	chr8:114977865-114977866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74404408	chr8:114977871-114977872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148879624	chr8:114977892-114977893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554576632	chr8:114977919-114977920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574484427	chr8:114977932-114977933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185237308	chr8:114977975-114977976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560348748	chr8:114977998-114977999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10505210	chr8:114978005-114978006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189738627	chr8:114978071-114978072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182349295	chr8:114978148-114978149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575485982	chr8:114978192-114978193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531464095	chr8:114978205-114978206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76262730	chr8:114978262-114978263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561711006	chr8:114978263-114978264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28645382	chr8:114978264-114978265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571167759	chr8:114978272-114978273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527236508	chr8:114978289-114978290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546984168	chr8:114978292-114978293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557315728	chr8:114978357-114978358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577258229	chr8:114978371-114978372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7835123	chr8:114978390-114978391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553413248	chr8:114978392-114978393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532617474	chr8:114978394-114978395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552382069	chr8:114978422-114978423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569091992	chr8:114978436-114978437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537988093	chr8:114978472-114978473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554641796	chr8:114978486-114978487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568366535	chr8:114978504-114978505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534156027	chr8:114978569-114978570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187730624	chr8:114978570-114978571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577041215	chr8:114978573-114978574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367737452	chr8:114978574-114978575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145527579	chr8:114978587-114978588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556432641	chr8:114978596-114978597	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Cancer	20164919	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114975800-114978000	Weak transcription	Hela-S3	cervix
2	chr8:114976800-114978400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:114978000-114978600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links