Variant report

Variant	nsv609740
Chromosome Location	chr8:3467705-3478445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:3475245-3475445	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:3475205-3475329	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:3472118-3472561	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:3477937-3478137	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:3469857-3470067	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:3474146-3474346	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr8:3468656-3468788	H1-hESC	embryonic stem cell:	n/a	n/a
8	STAT3	chr8:3478060-3478114	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:3470230-3470567	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CSMD1	TF binding region

Extended variants
information (count: 594 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543660289	chr8:3471800-3471801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557226288	chr8:3471814-3471815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577155185	chr8:3471822-3471823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76960020	chr8:3471832-3471833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113158322	chr8:3471837-3471838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112124802	chr8:3471841-3471842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538471690	chr8:3471842-3471843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550731469	chr8:3471854-3471855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180786875	chr8:3471862-3471863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555590893	chr8:3471871-3471872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536538646	chr8:3471878-3471879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554714467	chr8:3471904-3471905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185450070	chr8:3471923-3471924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370464163	chr8:3471987-3471988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534142018	chr8:3471996-3471997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559107223	chr8:3472018-3472019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151043611	chr8:3472030-3472031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191023406	chr8:3472031-3472032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374208638	chr8:3472039-3472040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559926801	chr8:3472043-3472044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563080021	chr8:3472052-3472053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575658596	chr8:3472058-3472059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139690668	chr8:3472084-3472085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542504678	chr8:3472090-3472091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10112183	chr8:3472110-3472111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528093864	chr8:3472116-3472117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149862600	chr8:3472121-3472122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564670155	chr8:3472130-3472131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532064875	chr8:3472131-3472132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572021844	chr8:3472150-3472151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145867715	chr8:3472154-3472155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541137842	chr8:3472166-3472167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184060388	chr8:3472171-3472172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116723323	chr8:3472196-3472197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148999994	chr8:3472199-3472200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560829912	chr8:3472216-3472217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529717481	chr8:3472252-3472253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147092547	chr8:3472279-3472280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534205395	chr8:3472281-3472282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111762036	chr8:3472291-3472292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558970038	chr8:3472294-3472295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186575885	chr8:3472319-3472320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147715796	chr8:3472328-3472329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191933898	chr8:3472345-3472346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142096473	chr8:3472346-3472347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182845269	chr8:3472369-3472370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560437228	chr8:3472376-3472377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6997324	chr8:3472379-3472380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186919120	chr8:3472382-3472383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113774788	chr8:3472394-3472395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Ovarian cancer	22355333	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3471800-3479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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