Variant report

Variant	esv20254
Chromosome Location	chr1:159118351-159123995
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	CTCF	chr1:159118609-159118664	Lung_OC	lung:	n/a	n/a
2	FOS	chr1:159122519-159122596	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr1:159121148-159121223	GM12878	blood:	n/a	n/a
4	SPI1	chr1:159121833-159122108	GM12878	blood:	n/a	n/a
5	SPI1	chr1:159121891-159122120	GM12891	blood:	n/a	n/a
6	SPI1	chr1:159120415-159120548	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159116257..159118878-chr1:159120599..159122535,2	K562	blood:

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000163568	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573505742	chr1:159118439-159118440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150771147	chr1:159118495-159118496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2852731	chr1:159118516-159118517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556057153	chr1:159118528-159118529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185424205	chr1:159118552-159118553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541390430	chr1:159118598-159118599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190347875	chr1:159118670-159118671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192686246	chr1:159118676-159118677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376987921	chr1:159118682-159118683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561953822	chr1:159118686-159118687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184720865	chr1:159118787-159118788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371411887	chr1:159118816-159118817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553598103	chr1:159118848-159118849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188019131	chr1:159118854-159118855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542514366	chr1:159118913-159118914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560820775	chr1:159118917-159118918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144705566	chr1:159118923-159118924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147911093	chr1:159118950-159118951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180929939	chr1:159118951-159118952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541346691	chr1:159118981-159118982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556096860	chr1:159118982-159118983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550687185	chr1:159118989-159118990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573287367	chr1:159119002-159119003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564209966	chr1:159119022-159119023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186266357	chr1:159119028-159119029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374937351	chr1:159119035-159119036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537596913	chr1:159119047-159119048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549721604	chr1:159119051-159119052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377444036	chr1:159119060-159119061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567917979	chr1:159119061-159119062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80229180	chr1:159119090-159119091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553376168	chr1:159119095-159119096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs863037	chr1:159119096-159119097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539130436	chr1:159119098-159119099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556986961	chr1:159119174-159119175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575116764	chr1:159119187-159119188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542379211	chr1:159119282-159119283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560732728	chr1:159119329-159119330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189984026	chr1:159119336-159119337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540153484	chr1:159119355-159119356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75851902	chr1:159119377-159119378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564935672	chr1:159119387-159119388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181703414	chr1:159119407-159119408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187169424	chr1:159119424-159119425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529311893	chr1:159119459-159119460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550699702	chr1:159119482-159119483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11586482	chr1:159119485-159119486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531146616	chr1:159119551-159119552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191598706	chr1:159119583-159119584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567740674	chr1:159119584-159119585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	19602461	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159112600-159132800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:159117600-159124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:159121400-159123800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:159121800-159122600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:159122600-159123000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:159123000-159123600	Enhancers	Monocytes-CD14+_RO01746	blood

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