Variant report

Variant	nsv1027786
Chromosome Location	chr8:3925974-4026811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:

Extended variants
information (count: 6292 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:6292 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541659200	chr8:3925980-3925981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192140805	chr8:3925992-3925993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574311534	chr8:3925998-3925999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574245666	chr8:3926007-3926008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553742115	chr8:3926008-3926009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578066449	chr8:3926023-3926024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561876598	chr8:3926041-3926042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182418832	chr8:3926042-3926043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377413371	chr8:3926065-3926066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530882293	chr8:3926066-3926067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544201758	chr8:3926099-3926100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115375686	chr8:3926102-3926103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561719863	chr8:3926114-3926115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538468493	chr8:3926131-3926132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77845634	chr8:3926134-3926135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146963062	chr8:3926145-3926146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533065243	chr8:3926151-3926152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187099279	chr8:3926165-3926166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2552110	chr8:3926167-3926168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192652822	chr8:3926193-3926194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536726094	chr8:3926203-3926204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78588506	chr8:3926205-3926206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368847924	chr8:3926206-3926207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80056016	chr8:3926231-3926232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139208555	chr8:3926245-3926246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184479123	chr8:3926255-3926256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545706134	chr8:3926259-3926260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190592281	chr8:3926260-3926261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149398194	chr8:3926268-3926269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542748782	chr8:3926329-3926330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561094535	chr8:3926350-3926351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370708416	chr8:3926355-3926356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75129657	chr8:3926363-3926364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564594484	chr8:3926367-3926368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143789607	chr8:3926406-3926407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148164821	chr8:3926425-3926426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569534167	chr8:3926442-3926443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374408144	chr8:3926449-3926450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533343733	chr8:3926450-3926451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1365271	chr8:3926460-3926461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560619543	chr8:3926477-3926478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548800313	chr8:3926482-3926483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112624173	chr8:3926491-3926492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529542766	chr8:3926505-3926506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534725181	chr8:3926510-3926511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193146990	chr8:3926514-3926515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571897997	chr8:3926521-3926522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373086415	chr8:3926533-3926534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538948959	chr8:3926542-3926543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77267184	chr8:3926556-3926557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

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
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3920400-3937000	Weak transcription	Fetal Heart	heart
2	chr8:3927000-3927200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:3935000-3935400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:3937000-3937400	Enhancers	Fetal Heart	heart
5	chr8:3938200-3938800	Enhancers	Adipose Nuclei	Adipose
6	chr8:3938400-3938600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:3938600-3942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:3938800-3939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:3940400-3940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:3941400-3942200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:3941400-3943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:3941800-3942200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:3942000-3942200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:3942000-3942400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:3942000-3942600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:3942000-3942800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:3942200-3942400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:3942200-3942400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:3942200-3944600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:3942200-3944800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:3942400-3944800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:3942400-3945200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:3942600-3944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:3942800-3944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:3943000-3944400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:3944400-3944800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:3944400-3945200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:3944600-3944800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:3944600-3944800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:3944600-3945000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:3944600-3945200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:3944600-3946800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:3944800-3945000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:3944800-3945000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:3944800-3946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:3945000-3945400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:3945000-3945400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:3945200-3946800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:3945400-3945800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:3945400-3945800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:3945600-3946000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:3946400-3946800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:3953800-3955200	Enhancers	Fetal Brain Female	brain
44	chr8:3954200-3954800	Enhancers	Fetal Brain Male	brain
45	chr8:3958000-3958400	Enhancers	Liver	Liver
46	chr8:3958400-3958600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr8:3958400-3958600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr8:3958400-3959000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:3958400-3959000	Flanking Active TSS	Liver	Liver
50	chr8:3958400-3959600	Enhancers	Fetal Muscle Leg	muscle

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