Variant report

Variant	nsv465770
Chromosome Location	chr8:114853127-114897615
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	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:
2	chr8:114854128..114856443-chr8:114857146..114858735,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6992411	chr8:114870236-114870237	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs529324481	chr8:114870238-114870239	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs535080031	chr8:114870279-114870280	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs146884923	chr8:114870297-114870298	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs554871054	chr8:114870330-114870331	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs544248599	chr8:114870351-114870352	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs139277807	chr8:114870360-114870361	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs572820641	chr8:114870376-114870377	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs568399501	chr8:114870377-114870378	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs9886433	chr8:114879021-114879022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534997403	chr8:114879049-114879050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551422982	chr8:114879113-114879114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145791989	chr8:114879187-114879188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536871666	chr8:114879216-114879217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556694442	chr8:114879324-114879325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542880428	chr8:114879354-114879355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190232349	chr8:114879387-114879388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181936637	chr8:114879419-114879420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562549139	chr8:114879485-114879486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184513307	chr8:114879488-114879489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531584716	chr8:114879557-114879558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572782056	chr8:114879570-114879571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551410804	chr8:114879573-114879574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544952945	chr8:114879596-114879597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564791188	chr8:114879612-114879613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578237962	chr8:114879629-114879630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544039985	chr8:114879639-114879640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571189307	chr8:114879714-114879715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189221983	chr8:114879739-114879740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181196319	chr8:114879779-114879780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369990092	chr8:114879803-114879804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185798415	chr8:114879864-114879865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191508595	chr8:114879904-114879905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551725669	chr8:114879925-114879926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571214489	chr8:114879957-114879958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373052735	chr8:114879965-114879966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536909228	chr8:114879976-114879977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73334978	chr8:114879988-114879989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180735914	chr8:114879995-114879996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72677707	chr8:114880005-114880006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115940137	chr8:114880060-114880061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138684793	chr8:114880086-114880087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7017435	chr8:114880103-114880104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186118503	chr8:114880108-114880109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552973216	chr8:114880126-114880127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11461921	chr8:114880182-114880183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398112901	chr8:114880184-114880185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200791055	chr8:114880185-114880186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538496286	chr8:114880196-114880197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78193701	chr8:114881410-114881411	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
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	chr8:114870200-114870400	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
2	chr8:114879000-114880200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:114879200-114880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:114879600-114880000	Enhancers	Dnd41	blood
5	chr8:114879600-114880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:114881400-114882200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links