Variant report

Variant	nsv438022
Chromosome Location	chr8:4589168-4598728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 826 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs293884	chr8:4589168-4589169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557142907	chr8:4589180-4589181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528981141	chr8:4589181-4589182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79285006	chr8:4589204-4589205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73175315	chr8:4589226-4589227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185918821	chr8:4589236-4589237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558122304	chr8:4589244-4589245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545507272	chr8:4589256-4589257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541390559	chr8:4589273-4589274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375085917	chr8:4589304-4589305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553069844	chr8:4589318-4589319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117861798	chr8:4589326-4589327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs293885	chr8:4589328-4589329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563587096	chr8:4589340-4589341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564992207	chr8:4589376-4589377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150963285	chr8:4589389-4589390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140539272	chr8:4589391-4589392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113573565	chr8:4589400-4589401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528089475	chr8:4589406-4589407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192507060	chr8:4589416-4589417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571368816	chr8:4589419-4589420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532289653	chr8:4589420-4589421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546123036	chr8:4589425-4589426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181815835	chr8:4589432-4589433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556631600	chr8:4589440-4589441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371529029	chr8:4589456-4589457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536423235	chr8:4589460-4589461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569341494	chr8:4589515-4589516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150464591	chr8:4589518-4589519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374719747	chr8:4589526-4589527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534709279	chr8:4589538-4589539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs293886	chr8:4589564-4589565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577611915	chr8:4589566-4589567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538789140	chr8:4589567-4589568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185995197	chr8:4589572-4589573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544397256	chr8:4589622-4589623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190556924	chr8:4589626-4589627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375549248	chr8:4589630-4589631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs293887	chr8:4589638-4589639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561432137	chr8:4589684-4589685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376705588	chr8:4589687-4589688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs293888	chr8:4589698-4589699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182782503	chr8:4589699-4589700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142667136	chr8:4589706-4589707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539540618	chr8:4589711-4589712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550721553	chr8:4589715-4589716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562578063	chr8:4589723-4589724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12543345	chr8:4589739-4589740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188274592	chr8:4589742-4589743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138994628	chr8:4589755-4589756	Weak transcription	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
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
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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4587800-4592600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4592400-4592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:4592400-4593200	Enhancers	Colon Smooth Muscle	Colon
4	chr8:4592600-4593200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4593200-4593600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:4593600-4593800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:4593800-4616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:4597200-4597600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:4597200-4598000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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