Variant report

Variant	nsv968499
Chromosome Location	chr8:6144629-6166604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:
2	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:
3	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:

Extended variants
information (count: 1609 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535154128	chr8:6144635-6144636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185793197	chr8:6144643-6144644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145589266	chr8:6144665-6144666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537595042	chr8:6144687-6144688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569808169	chr8:6144695-6144696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138007908	chr8:6144708-6144709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74393449	chr8:6144739-6144740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538854193	chr8:6144741-6144742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561752943	chr8:6144770-6144771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142577871	chr8:6144777-6144778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59371935	chr8:6144791-6144792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73506305	chr8:6144827-6144828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532965482	chr8:6144839-6144840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191092965	chr8:6144881-6144882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386721739	chr8:6144917-6144918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57242455	chr8:6144918-6144919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77220550	chr8:6144923-6144924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534987613	chr8:6144957-6144958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551907220	chr8:6144983-6144984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571728687	chr8:6144989-6144990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78039430	chr8:6145009-6145010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537534048	chr8:6145017-6145018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557580430	chr8:6145018-6145019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138463016	chr8:6145069-6145070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149234574	chr8:6145088-6145089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573025230	chr8:6145101-6145102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553359179	chr8:6145119-6145120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572031503	chr8:6145131-6145132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144438044	chr8:6145133-6145134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557963407	chr8:6145154-6145155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182577493	chr8:6145183-6145184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577362047	chr8:6145192-6145193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543089248	chr8:6145223-6145224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542070550	chr8:6145230-6145231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370070922	chr8:6145242-6145243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563530885	chr8:6145271-6145272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148415659	chr8:6145272-6145273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542928488	chr8:6145283-6145284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559336063	chr8:6145289-6145290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528503776	chr8:6145299-6145300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577450524	chr8:6145309-6145310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187283084	chr8:6145324-6145325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112474785	chr8:6145325-6145326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79655951	chr8:6145335-6145336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373779447	chr8:6145338-6145339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536418323	chr8:6145340-6145341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115812819	chr8:6145350-6145351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574357382	chr8:6145369-6145370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147545747	chr8:6145372-6145373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112647608	chr8:6145375-6145376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
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
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6132800-6149000	Weak transcription	Spleen	Spleen
2	chr8:6144600-6147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:6147200-6147400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:6147200-6148200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:6147200-6148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:6147200-6148200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6147200-6148800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:6147600-6147800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:6147800-6148000	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:6147800-6148200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:6147800-6148200	Enhancers	Adipose Nuclei	Adipose
15	chr8:6147800-6148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:6147800-6148800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:6147800-6148800	Enhancers	Primary B cells from cord blood	blood
18	chr8:6148000-6149000	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:6148000-6149000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:6148200-6148600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:6148200-6149000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:6148200-6149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr8:6148200-6149600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:6148600-6149000	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:6148600-6149400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:6148600-6149400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr8:6148600-6149600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:6148600-6149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:6148800-6149000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
30	chr8:6148800-6149000	Enhancers	GM12878-XiMat	blood
31	chr8:6148800-6149200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:6148800-6149200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:6148800-6149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:6148800-6149400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr8:6148800-6149400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr8:6148800-6149400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:6148800-6149400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:6149000-6149200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr8:6149000-6149400	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr8:6149000-6149400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:6149000-6149400	Enhancers	Fetal Thymus	thymus
42	chr8:6149000-6149400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr8:6149000-6149400	Enhancers	Spleen	Spleen
44	chr8:6149000-6149400	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:6149000-6149400	Enhancers	NHDF-Ad	bronchial
46	chr8:6149000-6149600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:6149000-6149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr8:6149000-6149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:6149000-6149800	Enhancers	Osteobl	bone
50	chr8:6149200-6149400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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