Variant report

Variant	nsv470170
Chromosome Location	chr8:2883388-2899975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:2893385..2895332-chr8:2897701..2899292,2	K562	blood:
2	chr8:2884129..2886374-chr8:2888333..2890117,2	K562	blood:
3	chr12:56367505..56368235-chr8:2894157..2894798,2	MCF-7	breast:
4	chr8:2884129..2886374-chr8:2888333..2890117,2	K562	blood:
5	chr8:2893385..2895332-chr8:2897701..2899292,2	K562	blood:

Variant related genes	Relation type
ENSG00000111540	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs616754	chr8:2883388-2883389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78892421	chr8:2883392-2883393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113826198	chr8:2883393-2883394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369012455	chr8:2883450-2883451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550894024	chr8:2883451-2883452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570697607	chr8:2883455-2883456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533332590	chr8:2883503-2883504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577987895	chr8:2883514-2883515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75516796	chr8:2883515-2883516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535951184	chr8:2883553-2883554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183053592	chr8:2883556-2883557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537264927	chr8:2883558-2883559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575587674	chr8:2883595-2883596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572944738	chr8:2883611-2883612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1471733	chr8:2883624-2883625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144278088	chr8:2883634-2883635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542708868	chr8:2883714-2883715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77933666	chr8:2883717-2883718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142271783	chr8:2883719-2883720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540008246	chr8:2883723-2883724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79536084	chr8:2883731-2883732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187389608	chr8:2883734-2883735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140145203	chr8:2883736-2883737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565408691	chr8:2883742-2883743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145557061	chr8:2883759-2883760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76899869	chr8:2883777-2883778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544622655	chr8:2883780-2883781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552430417	chr8:2883831-2883832	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs13280302	chr8:2883842-2883843	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533680454	chr8:2883845-2883846	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546835013	chr8:2883886-2883887	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114954040	chr8:2883887-2883888	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529365352	chr8:2883911-2883912	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549527250	chr8:2883914-2883915	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147712216	chr8:2883915-2883916	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538207608	chr8:2883916-2883917	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551804188	chr8:2883919-2883920	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571412155	chr8:2883924-2883925	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534136613	chr8:2883926-2883927	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553683136	chr8:2883935-2883936	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573810858	chr8:2883936-2883937	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535930444	chr8:2883940-2883941	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555807511	chr8:2883942-2883943	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371225311	chr8:2883949-2883950	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544555315	chr8:2883954-2883955	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564905092	chr8:2883982-2883983	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs578178677	chr8:2883987-2883988	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540965957	chr8:2883996-2883997	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560498917	chr8:2884002-2884003	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142079209	chr8:2884015-2884016	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2858600-2887600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:2883800-2884200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:2883800-2884200	ZNF genes & repeats	Lung	lung
4	chr8:2884200-2886800	Weak transcription	Lung	lung
5	chr8:2885400-2885600	Enhancers	Pancreas	Pancrea
6	chr8:2885600-2886600	Weak transcription	Pancreas	Pancrea
7	chr8:2886600-2887000	ZNF genes & repeats	Pancreas	Pancrea
8	chr8:2886800-2887000	ZNF genes & repeats	Lung	lung
9	chr8:2887000-2892400	Weak transcription	Pancreas	Pancrea
10	chr8:2891400-2891600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:2891400-2893000	Enhancers	Fetal Lung	lung
12	chr8:2892400-2892600	Enhancers	Pancreas	Pancrea
13	chr8:2893000-2893800	Weak transcription	Fetal Lung	lung
14	chr8:2893800-2894000	Enhancers	Fetal Lung	lung
15	chr8:2894000-2894400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links