Variant report

Variant	nsv511403
Chromosome Location	chr8:114029421-114056593
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	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140510668	chr8:114048853-114048854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572302618	chr8:114048863-114048864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535026189	chr8:114049012-114049013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557988935	chr8:114049038-114049039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12541754	chr8:114049073-114049074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10090675	chr8:114049111-114049112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563646640	chr8:114049286-114049287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138205509	chr8:114049291-114049292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7820383	chr8:114049325-114049326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184015532	chr8:114049331-114049332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7820379	chr8:114049340-114049341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559247095	chr8:114049383-114049384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528056596	chr8:114049404-114049405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551707136	chr8:114049417-114049418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565151362	chr8:114049419-114049420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189743261	chr8:114049421-114049422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568130369	chr8:114049433-114049434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529041133	chr8:114049465-114049466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567130402	chr8:114049530-114049531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536392308	chr8:114049538-114049539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546280062	chr8:114049588-114049589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1504340	chr8:114049605-114049606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143327466	chr8:114049623-114049624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558050298	chr8:114049753-114049754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370039207	chr8:114049874-114049875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538941884	chr8:114049890-114049891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537287153	chr8:114049900-114049901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537327100	chr8:114049920-114049921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557351650	chr8:114049928-114049929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573946240	chr8:114049935-114049936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543181699	chr8:114050015-114050016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148351437	chr8:114050019-114050020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143273617	chr8:114050083-114050084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545191881	chr8:114050110-114050111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565060186	chr8:114050135-114050136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530862773	chr8:114050147-114050148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544177597	chr8:114050152-114050153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113510534	chr8:114050177-114050178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116710962	chr8:114050212-114050213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147533786	chr8:114050258-114050259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192704482	chr8:114050283-114050284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561752915	chr8:114050390-114050391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566200431	chr8:114050396-114050397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140241803	chr8:114050446-114050447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550692198	chr8:114050460-114050461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571724549	chr8:114050503-114050504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59477248	chr8:114050542-114050543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568825834	chr8:114050543-114050544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557153483	chr8:114050546-114050547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557360195	chr8:114050571-114050572	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114048800-114051200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:114049200-114051200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links