Variant report

Variant	nsv1020179
Chromosome Location	chr8:3443289-3463535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 594 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534610952	chr8:3443605-3443606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372207553	chr8:3443625-3443626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375882644	chr8:3443626-3443627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551320729	chr8:3443634-3443635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563512481	chr8:3443637-3443638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530592299	chr8:3443640-3443641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549303366	chr8:3443645-3443646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74445968	chr8:3443651-3443652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372522595	chr8:3443660-3443661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376057777	chr8:3443661-3443662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369184743	chr8:3443665-3443666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373675751	chr8:3443668-3443669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377071972	chr8:3443671-3443672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200732268	chr8:3443689-3443690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376686325	chr8:3443692-3443693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371509704	chr8:3443696-3443697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373308011	chr8:3443698-3443699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547016307	chr8:3443716-3443717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377719634	chr8:3443743-3443744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117264731	chr8:3443786-3443787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368444679	chr8:3443799-3443800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537441389	chr8:3443800-3443801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376607183	chr8:3443810-3443811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557143291	chr8:3443812-3443813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374757740	chr8:3443813-3443814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575796199	chr8:3443816-3443817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7826399	chr8:3443824-3443825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377190978	chr8:3443826-3443827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554880957	chr8:3443832-3443833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34200940	chr8:3443841-3443842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397827569	chr8:3443853-3443854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181136357	chr8:3443867-3443868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142853608	chr8:3443872-3443873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558907752	chr8:3443882-3443883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577529792	chr8:3443901-3443902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545109224	chr8:3443903-3443904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563190511	chr8:3443918-3443919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76459070	chr8:3443951-3443952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs986184	chr8:3443992-3443993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539893835	chr8:3444000-3444001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs986183	chr8:3444008-3444009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs528376326	chr8:3444010-3444011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547053229	chr8:3444013-3444014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571632276	chr8:3444029-3444030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538630349	chr8:3444037-3444038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62473892	chr8:3444153-3444154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551060843	chr8:3444173-3444174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4875747	chr8:3444179-3444180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374091180	chr8:3444192-3444193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536492239	chr8:3444195-3444196	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3443600-3445200	Enhancers	Fetal Muscle Leg	muscle
2	chr8:3450400-3450600	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:3450600-3453400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:3451600-3451800	Enhancers	Fetal Lung	lung
5	chr8:3452000-3452400	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:3452000-3452600	Enhancers	Brain Hippocampus Middle	brain
7	chr8:3452200-3452400	Enhancers	Gastric	stomach
8	chr8:3452200-3453400	Enhancers	Brain Anterior Caudate	brain
9	chr8:3452200-3453800	Enhancers	Brain Angular Gyrus	brain
10	chr8:3452200-3454800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:3452400-3452600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr8:3452400-3454800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:3452600-3453000	Active TSS	Brain Hippocampus Middle	brain
14	chr8:3452600-3453000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:3452600-3453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:3452600-3453800	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:3452800-3453600	Enhancers	Brain Substantia Nigra	brain
18	chr8:3453000-3453600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:3453000-3453800	Enhancers	Brain Hippocampus Middle	brain
20	chr8:3453200-3453800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:3453400-3454400	Enhancers	Fetal Lung	lung
22	chr8:3453400-3454800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:3454200-3454600	Enhancers	Gastric	stomach
24	chr8:3462800-3464600	Weak transcription	Fetal Heart	heart

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