Variant report

Variant	nsv889968
Chromosome Location	chr8:4573319-4583406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:30519178..30519958-chr8:4582339..4582839,2	MCF-7	breast:

Extended variants
information (count: 834 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1676966	chr8:4573319-4573320	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184131747	chr8:4573342-4573343	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375017292	chr8:4573381-4573382	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550389140	chr8:4573428-4573429	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568805088	chr8:4573458-4573459	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190680729	chr8:4573467-4573468	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74913187	chr8:4573470-4573471	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79965081	chr8:4573473-4573474	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78385637	chr8:4573521-4573522	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557784722	chr8:4573522-4573523	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560535421	chr8:4573551-4573552	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569644541	chr8:4573560-4573561	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192497500	chr8:4573565-4573566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568832280	chr8:4573567-4573568	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574125326	chr8:4573575-4573576	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573622081	chr8:4573593-4573594	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540895253	chr8:4573599-4573600	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553889344	chr8:4573605-4573606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572359763	chr8:4573614-4573615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545876004	chr8:4573626-4573627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564643853	chr8:4573627-4573628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531825091	chr8:4573637-4573638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115761141	chr8:4573653-4573654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565301742	chr8:4573674-4573675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139406496	chr8:4573679-4573680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372890923	chr8:4573692-4573693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548027476	chr8:4573714-4573715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142615295	chr8:4573715-4573716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541571495	chr8:4573729-4573730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563062962	chr8:4573739-4573740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146032425	chr8:4573746-4573747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569763436	chr8:4573784-4573785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184717015	chr8:4573795-4573796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375448391	chr8:4573830-4573831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567085188	chr8:4573842-4573843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74917641	chr8:4573845-4573846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115082696	chr8:4573859-4573860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139443394	chr8:4573871-4573872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561312184	chr8:4573874-4573875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532560470	chr8:4573906-4573907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372393877	chr8:4573914-4573915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539855700	chr8:4573944-4573945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530363689	chr8:4573966-4573967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369843582	chr8:4573972-4573973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73659193	chr8:4573975-4573976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116136486	chr8:4573992-4573993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562274872	chr8:4573994-4573995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188992957	chr8:4573995-4573996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373233560	chr8:4574014-4574015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560033330	chr8:4574062-4574063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4570600-4586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4573000-4573600	Enhancers	Fetal Heart	heart
3	chr8:4573200-4573600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:4573200-4573600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:4573200-4573600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:4573200-4574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:4573200-4574000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:4573200-4574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:4573200-4574000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:4573200-4574200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:4573400-4573800	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:4573400-4574000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:4573400-4574000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:4573400-4574000	Enhancers	Brain Substantia Nigra	brain
15	chr8:4573400-4574000	Enhancers	Fetal Lung	lung
16	chr8:4573400-4574200	Enhancers	Brain Hippocampus Middle	brain
17	chr8:4573600-4573800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:4573600-4574000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:4573600-4574200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:4573600-4574200	Enhancers	Brain Inferior Temporal Lobe	brain

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