Variant report

Variant	nsv889901
Chromosome Location	chr8:3442450-3452887
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	chr8:3142043..3142754-chr8:3442196..3443079,3	K562	blood:
2	chr12:58159481..58160161-chr8:3442277..3442945,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000183117	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7013570	chr8:3442450-3442451	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533644013	chr8:3442464-3442465	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138021490	chr8:3442470-3442471	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570369880	chr8:3442487-3442488	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189010805	chr8:3442491-3442492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180963796	chr8:3442524-3442525	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568110655	chr8:3442545-3442546	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535308785	chr8:3442561-3442562	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577628293	chr8:3442568-3442569	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370290412	chr8:3442571-3442572	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572039232	chr8:3442589-3442590	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539362385	chr8:3442598-3442599	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141656109	chr8:3442605-3442606	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576360252	chr8:3442629-3442630	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573876710	chr8:3442651-3442652	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543756099	chr8:3442718-3442719	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11993897	chr8:3442734-3442735	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184596163	chr8:3442794-3442795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189266064	chr8:3442808-3442809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559969227	chr8:3442831-3442832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75297689	chr8:3442832-3442833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116999307	chr8:3442833-3442834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75224410	chr8:3442840-3442841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4875745	chr8:3442853-3442854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77760344	chr8:3442877-3442878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116260755	chr8:3442899-3442900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4875746	chr8:3442901-3442902	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546015002	chr8:3442920-3442921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374420746	chr8:3442949-3442950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565558144	chr8:3442952-3442953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539198035	chr8:3442980-3442981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150514831	chr8:3443072-3443073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534610952	chr8:3443605-3443606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372207553	chr8:3443625-3443626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375882644	chr8:3443626-3443627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551320729	chr8:3443634-3443635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563512481	chr8:3443637-3443638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530592299	chr8:3443640-3443641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549303366	chr8:3443645-3443646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74445968	chr8:3443651-3443652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372522595	chr8:3443660-3443661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376057777	chr8:3443661-3443662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369184743	chr8:3443665-3443666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373675751	chr8:3443668-3443669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377071972	chr8:3443671-3443672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200732268	chr8:3443689-3443690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376686325	chr8:3443692-3443693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371509704	chr8:3443696-3443697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373308011	chr8:3443698-3443699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547016307	chr8:3443716-3443717	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3442400-3442800	Enhancers	Brain Cingulate Gyrus	brain
2	chr8:3443600-3445200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:3450400-3450600	Enhancers	Fetal Muscle Trunk	muscle
4	chr8:3450600-3453400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:3451600-3451800	Enhancers	Fetal Lung	lung
6	chr8:3452000-3452400	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:3452000-3452600	Enhancers	Brain Hippocampus Middle	brain
8	chr8:3452200-3452400	Enhancers	Gastric	stomach
9	chr8:3452200-3453400	Enhancers	Brain Anterior Caudate	brain
10	chr8:3452200-3453800	Enhancers	Brain Angular Gyrus	brain
11	chr8:3452200-3454800	Enhancers	Fetal Muscle Leg	muscle
12	chr8:3452400-3452600	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr8:3452400-3454800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:3452600-3453000	Active TSS	Brain Hippocampus Middle	brain
15	chr8:3452600-3453000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:3452600-3453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:3452600-3453800	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:3452800-3453600	Enhancers	Brain Substantia Nigra	brain

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