Variant report

Variant	nsv520485
Chromosome Location	chr8:9718278-9729939
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	ARID3A	chr8:9723335-9723357	HepG2	liver:	n/a	n/a
2	CTCF	chr8:9728512-9728556	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:9728440-9728590	A549	lung:	n/a	n/a
4	MAFF	chr8:9729504-9729811	K562	blood:	n/a	chr8:9729657-9729675
5	MAFF	chr8:9729484-9729852	HepG2	liver:	n/a	chr8:9729657-9729675
6	MAFK	chr8:9729524-9729803	K562	blood:	n/a	chr8:9729659-9729674
7	MAFK	chr8:9729582-9729849	H1-hESC	embryonic stem cell:	n/a	chr8:9729659-9729674
8	MAFK	chr8:9729494-9729762	Hela-S3	cervix:	n/a	chr8:9729659-9729674
9	MAFK	chr8:9729492-9729851	IMR90	lung:	n/a	chr8:9729659-9729674
10	MAFK	chr8:9729490-9729821	HepG2	liver:	n/a	chr8:9729659-9729674
11	MAFK	chr8:9729486-9729852	HepG2	liver:	n/a	chr8:9729659-9729674
12	POLR2A	chr8:9727729-9727872	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr8:9721184-9721427	H1-hESC	embryonic stem cell:	n/a	chr8:9721269-9721288
14	STAT3	chr8:9722718-9722774	MCF10A-Er-Src	breast:	n/a	chr8:9722752-9722760

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9727833..9729706-chr8:9742028..9743799,2	K562	blood:

Variant related genes	Relation type
ENSG00000239065	TF binding region

Extended variants
information (count: 557 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:557 , 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	rs202050987	chr8:9719208-9719209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191259265	chr8:9719215-9719216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575952572	chr8:9719281-9719282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561195374	chr8:9719282-9719283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183168611	chr8:9719294-9719295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540248124	chr8:9719301-9719302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560247930	chr8:9719305-9719306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186064158	chr8:9719349-9719350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75844483	chr8:9719365-9719366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567110558	chr8:9719370-9719371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550165739	chr8:9719395-9719396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190883061	chr8:9719415-9719416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570366324	chr8:9719418-9719419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571736462	chr8:9719440-9719441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183176046	chr8:9719478-9719479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550837169	chr8:9719481-9719482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367723811	chr8:9719486-9719487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116457802	chr8:9719500-9719501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536207880	chr8:9719553-9719554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536578235	chr8:9719569-9719570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73524682	chr8:9719576-9719577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566573335	chr8:9719579-9719580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538748324	chr8:9719602-9719603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559043549	chr8:9719611-9719612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575323966	chr8:9719637-9719638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544415864	chr8:9719638-9719639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554868439	chr8:9719657-9719658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574792444	chr8:9719667-9719668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549780995	chr8:9719696-9719697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377525799	chr8:9719703-9719704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142512347	chr8:9719713-9719714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116219117	chr8:9719717-9719718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560185055	chr8:9719735-9719736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532171259	chr8:9719824-9719825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545561340	chr8:9719825-9719826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28404841	chr8:9719827-9719828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187584871	chr8:9719873-9719874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77241972	chr8:9719878-9719879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567574777	chr8:9719883-9719884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530326757	chr8:9719889-9719890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192605567	chr8:9719914-9719915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566737006	chr8:9719937-9719938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150942834	chr8:9719947-9719948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10086851	chr8:9719984-9719985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs543045045	chr8:9720011-9720012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578179093	chr8:9720013-9720014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371154886	chr8:9720029-9720030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537997942	chr8:9720056-9720057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554805057	chr8:9720089-9720090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140770642	chr8:9720114-9720115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
Prostate cancer	16573809	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
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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9719200-9719800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9719800-9727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:9722600-9722800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:9722800-9723000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:9723000-9723200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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