Variant report

Variant	esv3441762
Chromosome Location	chr3:118280912-118282860
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	IRF3	chr3:118282159-118282337	GM12878	blood:	n/a	chr3:118282252-118282266

Variant related genes	Relation type
ENSG00000243276	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553267149	chr3:118280942-118280943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58755940	chr3:118280986-118280987	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571570735	chr3:118281058-118281059	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146491383	chr3:118281061-118281062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557013724	chr3:118281063-118281064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140872375	chr3:118281098-118281099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34658953	chr3:118281112-118281113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535147121	chr3:118281118-118281119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115238246	chr3:118281147-118281148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568531173	chr3:118281239-118281240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72952786	chr3:118281258-118281259	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9814010	chr3:118281297-118281298	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs559589874	chr3:118281298-118281299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75708986	chr3:118281416-118281417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558070991	chr3:118281486-118281487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563368721	chr3:118281515-118281516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530904733	chr3:118281516-118281517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370425634	chr3:118281542-118281543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561236915	chr3:118281555-118281556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368333731	chr3:118281604-118281605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113023186	chr3:118281605-118281606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199500674	chr3:118281607-118281608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7612565	chr3:118281667-118281668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192792184	chr3:118281687-118281688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533893132	chr3:118281724-118281725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369331867	chr3:118281778-118281779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147969187	chr3:118281808-118281809	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201994840	chr3:118281828-118281829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538969934	chr3:118281961-118281962	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143309410	chr3:118282006-118282007	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568883281	chr3:118282011-118282012	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7625296	chr3:118282067-118282068	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184841335	chr3:118282134-118282135	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578156340	chr3:118282206-118282207	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534854498	chr3:118282210-118282211	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553182526	chr3:118282260-118282261	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571970852	chr3:118282271-118282272	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577891968	chr3:118282341-118282342	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545339155	chr3:118282376-118282377	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4688118	chr3:118282394-118282395	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189204174	chr3:118282407-118282408	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4688119	chr3:118282466-118282467	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561408160	chr3:118282481-118282482	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528595295	chr3:118282484-118282485	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181529725	chr3:118282504-118282505	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565105422	chr3:118282581-118282582	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150893923	chr3:118282637-118282638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151137993	chr3:118282648-118282649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550935610	chr3:118282674-118282675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543260924	chr3:118282685-118282686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118268000-118305800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:118271800-118291200	Weak transcription	Pancreas	Pancrea
3	chr3:118280000-118282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:118282200-118282600	Enhancers	GM12878-XiMat	blood
5	chr3:118282600-118283000	Weak transcription	GM12878-XiMat	blood
6	chr3:118282600-118286000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:118282800-118283400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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