Variant report

Variant	nsv889958
Chromosome Location	chr8:4349983-4414063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
2	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
3	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:

Extended variants
information (count: 1819 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:1819 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553636130	chr8:4352801-4352802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180959948	chr8:4352808-4352809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185036715	chr8:4352836-4352837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562483813	chr8:4352845-4352846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71523632	chr8:4352856-4352857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542907018	chr8:4352879-4352880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576080812	chr8:4352880-4352881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545327282	chr8:4352889-4352890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192113651	chr8:4352891-4352892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554489943	chr8:4352907-4352908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4875352	chr8:4352943-4352944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539985859	chr8:4352952-4352953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564981296	chr8:4352954-4352955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532024968	chr8:4352966-4352967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527538323	chr8:4352968-4352969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543805790	chr8:4352990-4352991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13439111	chr8:4352992-4352993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560306937	chr8:4353015-4353016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530350855	chr8:4353066-4353067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182202932	chr8:4353074-4353075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143434507	chr8:4353078-4353079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368858305	chr8:4353096-4353097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564025803	chr8:4353098-4353099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199656204	chr8:4353105-4353106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546391085	chr8:4353106-4353107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67875283	chr8:4353107-4353108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398006969	chr8:4353114-4353115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552437199	chr8:4353126-4353127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570963027	chr8:4353135-4353136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147162395	chr8:4353148-4353149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556611892	chr8:4353150-4353151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568434049	chr8:4353152-4353153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148227974	chr8:4353158-4353159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6558888	chr8:4353163-4353164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572991945	chr8:4353175-4353176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373021187	chr8:4353180-4353181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141944104	chr8:4353215-4353216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558418405	chr8:4353224-4353225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576536836	chr8:4353244-4353245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561257193	chr8:4353299-4353300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530228123	chr8:4353305-4353306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186788101	chr8:4353334-4353335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376606345	chr8:4353347-4353348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562174600	chr8:4353359-4353360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549835200	chr8:4353362-4353363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542202459	chr8:4353370-4353371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560836889	chr8:4353372-4353373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191693747	chr8:4353377-4353378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552749027	chr8:4353391-4353392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150677284	chr8:4353406-4353407	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4352800-4354200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4353400-4353800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:4353400-4355000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:4353400-4355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:4353600-4353800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:4353600-4354400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:4353600-4354400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:4353800-4354000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:4353800-4354000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:4353800-4354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:4353800-4354400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:4353800-4354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:4354000-4354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:4354000-4354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:4354000-4355000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:4354200-4354400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:4354200-4355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:4354400-4355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:4355400-4355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:4364800-4365400	Enhancers	Fetal Heart	heart
21	chr8:4365400-4366400	Weak transcription	Fetal Heart	heart
22	chr8:4366400-4369000	Enhancers	Fetal Heart	heart
23	chr8:4367000-4367200	Enhancers	Right Atrium	heart
24	chr8:4367200-4374000	Weak transcription	Right Atrium	heart
25	chr8:4369000-4369400	Enhancers	Fetal Lung	lung
26	chr8:4369000-4369600	Flanking Active TSS	Fetal Heart	heart
27	chr8:4369400-4374600	Weak transcription	Fetal Lung	lung
28	chr8:4369600-4370600	Active TSS	Fetal Heart	heart
29	chr8:4370600-4370800	Weak transcription	Fetal Heart	heart
30	chr8:4370800-4375600	Enhancers	Fetal Heart	heart
31	chr8:4372000-4372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:4372200-4373800	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:4372200-4375400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:4372400-4373000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:4372400-4373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:4372400-4373600	Enhancers	Brain Anterior Caudate	brain
37	chr8:4372600-4373600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:4372800-4374200	Enhancers	Fetal Brain Male	brain
39	chr8:4373200-4373800	Enhancers	Brain Hippocampus Middle	brain
40	chr8:4373200-4374200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:4373200-4374200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:4374000-4374200	Genic enhancers	Right Atrium	heart
43	chr8:4374200-4374600	Weak transcription	Right Atrium	heart
44	chr8:4374200-4377400	Weak transcription	Fetal Brain Male	brain
45	chr8:4374600-4375200	Enhancers	Fetal Lung	lung
46	chr8:4375400-4375600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:4375600-4384400	Weak transcription	Fetal Heart	heart
48	chr8:4377400-4378000	Enhancers	Fetal Brain Male	brain
49	chr8:4384400-4386200	Enhancers	Fetal Heart	heart
50	chr8:4395200-4395400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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