Variant report

Variant	nsv1016303
Chromosome Location	chr8:3855096-3875391
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	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
2	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:

Extended variants
information (count: 939 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193070869	chr8:3855096-3855097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115728729	chr8:3855110-3855111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184801958	chr8:3855115-3855116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188898973	chr8:3855116-3855117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528078567	chr8:3855117-3855118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546648321	chr8:3855129-3855130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571364695	chr8:3855136-3855137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532287835	chr8:3855140-3855141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181395832	chr8:3855144-3855145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185872939	chr8:3855162-3855163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1863476	chr8:3855167-3855168	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs536914580	chr8:3855190-3855191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561670866	chr8:3855196-3855197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554945688	chr8:3855213-3855214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566850127	chr8:3855214-3855215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113347635	chr8:3855221-3855222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533927990	chr8:3855227-3855228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558566616	chr8:3855230-3855231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576884332	chr8:3855236-3855237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544303143	chr8:3855241-3855242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557090646	chr8:3855246-3855247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181425224	chr8:3855251-3855252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142096064	chr8:3855272-3855273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151174355	chr8:3855276-3855277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372512102	chr8:3855301-3855302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1863475	chr8:3855302-3855303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs185884556	chr8:3855306-3855307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574975149	chr8:3855329-3855330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17068476	chr8:3855337-3855338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556860587	chr8:3855338-3855339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568966081	chr8:3855349-3855350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543881832	chr8:3855350-3855351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530208151	chr8:3855355-3855356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191130991	chr8:3855358-3855359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201236301	chr8:3855370-3855371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75177757	chr8:3855371-3855372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534229246	chr8:3855376-3855377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375948567	chr8:3855385-3855386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186571749	chr8:3855390-3855391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191082189	chr8:3855411-3855412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182868860	chr8:3855415-3855416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377041114	chr8:3855416-3855417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187598528	chr8:3855417-3855418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373742696	chr8:3855418-3855419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367545152	chr8:3855443-3855444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542456000	chr8:3855448-3855449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372083600	chr8:3855450-3855451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375447638	chr8:3855462-3855463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367928181	chr8:3855492-3855493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372517770	chr8:3855507-3855508	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
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3846200-3857400	Weak transcription	Pancreas	Pancrea
2	chr8:3852600-3862800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:3857600-3857800	Enhancers	Pancreas	Pancrea
4	chr8:3857800-3859000	Enhancers	HepG2	liver
5	chr8:3862600-3863800	Enhancers	Fetal Brain Female	brain
6	chr8:3862800-3864000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:3862800-3864000	Enhancers	Fetal Brain Male	brain
8	chr8:3863200-3864200	Enhancers	Brain Germinal Matrix	brain

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