Variant report

Variant	nsv519760
Chromosome Location	chr8:3622059-3647890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1917 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1917 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6558821	chr8:3622059-3622060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571158620	chr8:3622065-3622066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74340281	chr8:3622072-3622073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550618823	chr8:3622083-3622084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569021284	chr8:3622089-3622090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536071322	chr8:3622111-3622112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571663746	chr8:3622115-3622116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79543584	chr8:3622117-3622118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193204063	chr8:3622118-3622119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534029060	chr8:3622119-3622120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58642402	chr8:3622120-3622121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201641061	chr8:3622122-3622123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200031117	chr8:3622147-3622148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577183983	chr8:3622154-3622155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545828625	chr8:3622173-3622174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563066647	chr8:3622175-3622176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144689404	chr8:3622196-3622197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374128571	chr8:3622212-3622213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542483324	chr8:3622215-3622216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200672708	chr8:3622258-3622259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561710459	chr8:3622261-3622262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200927131	chr8:3622262-3622263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200884728	chr8:3622264-3622265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79988159	chr8:3622265-3622266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560678502	chr8:3622267-3622268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66603480	chr8:3622277-3622278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73498846	chr8:3622322-3622323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554126566	chr8:3622323-3622324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373060357	chr8:3622358-3622359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546399736	chr8:3622371-3622372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564866409	chr8:3622387-3622388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567952312	chr8:3622403-3622404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532048038	chr8:3622424-3622425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184711192	chr8:3622426-3622427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7011939	chr8:3622427-3622428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189983866	chr8:3622450-3622451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139846608	chr8:3622456-3622457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180789263	chr8:3622461-3622462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533992064	chr8:3622484-3622485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2623646	chr8:3622486-3622487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576264383	chr8:3622492-3622493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570803617	chr8:3622500-3622501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537897984	chr8:3622515-3622516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183529820	chr8:3622518-3622519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369180449	chr8:3622526-3622527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543884118	chr8:3622538-3622539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572694187	chr8:3622545-3622546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13252954	chr8:3622546-3622547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564861347	chr8:3622551-3622552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113202642	chr8:3622597-3622598	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
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
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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3621200-3622200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:3622000-3623200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:3622200-3623200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:3622600-3623800	Enhancers	HMEC	breast
7	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:3623200-3625000	Enhancers	Fetal Muscle Leg	muscle
11	chr8:3624400-3624600	Enhancers	Brain Germinal Matrix	brain
12	chr8:3624400-3625000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:3624400-3625000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:3624600-3624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:3624600-3625000	Enhancers	Brain Anterior Caudate	brain
16	chr8:3624600-3625000	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:3624600-3625000	Enhancers	Fetal Brain Male	brain
18	chr8:3624600-3625000	Enhancers	Fetal Lung	lung
19	chr8:3624600-3625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:3624800-3625200	Enhancers	Brain Substantia Nigra	brain
21	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
22	chr8:3626200-3626800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:3626200-3626800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:3626200-3626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:3631200-3631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:3631200-3631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:3631200-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:3631400-3631800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:3631400-3631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:3631400-3631800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:3631400-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:3631600-3631800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:3631600-3635000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:3631800-3632200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:3632000-3633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:3632000-3633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:3633200-3634400	Enhancers	HMEC	breast
41	chr8:3633400-3633800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:3633400-3634000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:3633400-3634200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:3633400-3634600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:3633600-3634200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:3633800-3635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:3635000-3635200	Enhancers	Brain Hippocampus Middle	brain
48	chr8:3635000-3635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:3635200-3635800	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:3635200-3636600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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