Variant report

Variant	nsv522242
Chromosome Location	chr8:3709660-3717980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539308544	chr8:3716601-3716602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559247459	chr8:3716607-3716608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373021894	chr8:3716616-3716617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75933143	chr8:3716623-3716624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537152785	chr8:3716630-3716631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572821904	chr8:3716652-3716653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180957598	chr8:3716670-3716671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573698996	chr8:3716693-3716694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374999209	chr8:3716713-3716714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559283006	chr8:3716715-3716716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577902962	chr8:3716716-3716717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186336526	chr8:3716720-3716721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563148211	chr8:3716761-3716762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112474732	chr8:3716800-3716801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563731668	chr8:3716822-3716823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534894961	chr8:3716835-3716836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369711658	chr8:3716839-3716840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530929997	chr8:3716845-3716846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34221054	chr8:3716869-3716870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555174739	chr8:3716871-3716872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571611623	chr8:3716879-3716880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372196075	chr8:3716888-3716889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538965443	chr8:3716895-3716896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574955947	chr8:3716933-3716934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145101863	chr8:3716973-3716974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191041119	chr8:3716987-3716988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181463693	chr8:3716994-3716995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2975369	chr8:3716998-3716999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573812738	chr8:3717025-3717026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7006254	chr8:3717059-3717060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552743345	chr8:3717085-3717086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577520968	chr8:3717089-3717090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544987163	chr8:3717095-3717096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138978953	chr8:3717103-3717104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142215183	chr8:3717107-3717108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375967039	chr8:3717134-3717135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542442593	chr8:3717136-3717137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146397616	chr8:3717143-3717144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528623897	chr8:3717145-3717146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73661011	chr8:3717167-3717168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368923474	chr8:3717174-3717175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565145317	chr8:3717185-3717186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554580306	chr8:3717209-3717210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75204667	chr8:3717212-3717213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148496904	chr8:3717219-3717220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376398981	chr8:3717222-3717223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530400153	chr8:3717235-3717236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141840584	chr8:3717259-3717260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190231440	chr8:3717263-3717264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567053929	chr8:3717267-3717268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3716600-3716800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:3716800-3717400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:3717000-3718000	Enhancers	Fetal Intestine Small	intestine
4	chr8:3717000-3720000	Enhancers	Fetal Intestine Large	intestine
5	chr8:3717400-3717600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:3717600-3718400	Weak transcription	Rectal Mucosa Donor 31	rectum

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