Variant report

Variant	nsv526578
Chromosome Location	chr8:5607156-5644695
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	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:
2	chr8:5610821..5612324-chr8:5615595..5617703,2	K562	blood:

Extended variants
information (count: 421 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13263919	chr8:5615422-5615423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs907703	chr8:5615452-5615453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186291128	chr8:5615466-5615467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191213849	chr8:5615482-5615483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576542170	chr8:5615489-5615490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528743919	chr8:5615503-5615504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75357142	chr8:5615504-5615505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560275731	chr8:5615509-5615510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527469497	chr8:5615520-5615521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552366910	chr8:5615529-5615530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372538065	chr8:5615545-5615546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146108345	chr8:5615557-5615558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549800258	chr8:5615567-5615568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568103282	chr8:5615568-5615569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536930190	chr8:5615572-5615573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548628986	chr8:5615573-5615574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184214177	chr8:5616201-5616202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189337499	chr8:5616211-5616212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75281217	chr8:5616213-5616214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200477444	chr8:5616251-5616252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192375238	chr8:5616275-5616276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151060054	chr8:5616280-5616281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142386880	chr8:5616301-5616302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4330714	chr8:5616306-5616307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553871439	chr8:5616318-5616319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375179746	chr8:5616322-5616323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199506905	chr8:5616354-5616355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144412079	chr8:5616360-5616361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376839007	chr8:5616388-5616389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2408097	chr8:5616394-5616395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556564121	chr8:5616396-5616397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558056119	chr8:5616402-5616403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554872258	chr8:5616417-5616418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147816497	chr8:5616426-5616427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2408098	chr8:5616431-5616432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555602264	chr8:5616432-5616433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573650544	chr8:5616438-5616439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541158351	chr8:5616463-5616464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112054060	chr8:5616494-5616495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559068691	chr8:5616495-5616496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376137012	chr8:5616497-5616498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386721604	chr8:5616501-5616502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116555360	chr8:5616503-5616504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117808001	chr8:5616506-5616507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572691813	chr8:5616518-5616519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184715439	chr8:5616523-5616524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2897847	chr8:5616532-5616533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549962038	chr8:5616551-5616552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568357188	chr8:5616558-5616559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141454173	chr8:5616563-5616564	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5615400-5615600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:5616200-5617200	Enhancers	Fetal Brain Male	brain
3	chr8:5620800-5621000	ZNF genes & repeats	NHDF-Ad	bronchial
4	chr8:5622600-5623000	ZNF genes & repeats	Small Intestine	intestine
5	chr8:5623000-5624800	Weak transcription	Small Intestine	intestine
6	chr8:5640200-5640600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:5640200-5641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:5641000-5641200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links