Variant report

Variant	nsv889928
Chromosome Location	chr8:3938816-4033186
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..4019883,4	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

Extended variants
information (count: 5116 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:5116 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386721209	chr8:3938816-3938817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78322901	chr8:3938818-3938819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193003381	chr8:3938824-3938825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60743504	chr8:3938826-3938827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539876289	chr8:3938838-3938839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76503499	chr8:3938842-3938843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75321023	chr8:3938847-3938848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111481767	chr8:3938849-3938850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188948405	chr8:3938850-3938851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114184094	chr8:3938869-3938870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541475183	chr8:3938872-3938873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553686547	chr8:3938879-3938880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57113112	chr8:3938892-3938893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556078390	chr8:3938899-3938900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144899502	chr8:3938914-3938915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181678049	chr8:3938920-3938921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2552146	chr8:3938923-3938924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531974769	chr8:3938937-3938938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34942039	chr8:3938942-3938943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544872356	chr8:3938948-3938949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2740897	chr8:3938980-3938981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547480106	chr8:3938991-3938992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577573167	chr8:3938993-3938994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540234730	chr8:3939004-3939005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566113535	chr8:3939006-3939007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539052752	chr8:3939032-3939033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77822122	chr8:3939034-3939035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118124829	chr8:3939055-3939056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552580601	chr8:3939056-3939057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537670787	chr8:3939057-3939058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555905545	chr8:3939066-3939067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185627854	chr8:3939067-3939068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188818284	chr8:3939073-3939074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180862239	chr8:3939095-3939096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145662013	chr8:3939117-3939118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373405081	chr8:3939127-3939128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560579791	chr8:3939135-3939136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148818581	chr8:3939136-3939137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566408355	chr8:3939143-3939144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78806811	chr8:3939153-3939154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186144285	chr8:3939158-3939159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191043728	chr8:3939167-3939168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181946030	chr8:3939169-3939170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2554639	chr8:3939181-3939182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73658567	chr8:3939185-3939186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143537964	chr8:3939191-3939192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555159205	chr8:3939209-3939210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186355550	chr8:3939221-3939222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551334275	chr8:3939225-3939226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569830474	chr8:3939226-3939227	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:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3938600-3942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:3938800-3939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:3940400-3940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:3941400-3942200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:3941400-3943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:3941800-3942200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:3942000-3942200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:3942000-3942400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:3942000-3942600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:3942000-3942800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:3942200-3942400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:3942200-3942400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:3942200-3944600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:3942200-3944800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:3942400-3944800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:3942400-3945200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:3942600-3944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:3942800-3944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:3943000-3944400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:3944400-3944800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:3944400-3945200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:3944600-3944800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:3944600-3944800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:3944600-3945000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:3944600-3945200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:3944600-3946800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:3944800-3945000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:3944800-3945000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:3944800-3946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:3945000-3945400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:3945000-3945400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:3945200-3946800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:3945400-3945800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:3945400-3945800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:3945600-3946000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:3946400-3946800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:3953800-3955200	Enhancers	Fetal Brain Female	brain
38	chr8:3954200-3954800	Enhancers	Fetal Brain Male	brain
39	chr8:3958000-3958400	Enhancers	Liver	Liver
40	chr8:3958400-3958600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:3958400-3958600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:3958400-3959000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:3958400-3959000	Flanking Active TSS	Liver	Liver
44	chr8:3958400-3959600	Enhancers	Fetal Muscle Leg	muscle
45	chr8:3958600-3958800	Active TSS	Adipose Nuclei	Adipose
46	chr8:3958600-3959600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:3958600-3959600	Enhancers	Fetal Lung	lung
48	chr8:3958600-3962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:3958600-3963800	Enhancers	HepG2	liver
50	chr8:3958800-3959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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