Variant report

Variant	esv3404158
Chromosome Location	chr3:145235512-145236610
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	chr3:145236420-145236719	HepG2	liver:	n/a	n/a
2	CEBPB	chr3:145236438-145236739	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:145236506-145236645	HepG2	liver:	n/a	n/a
4	ELF1	chr3:145236494-145236755	HepG2	liver:	n/a	n/a
5	ELF1	chr3:145236461-145236796	HepG2	liver:	n/a	n/a
6	EP300	chr3:145236443-145236791	HepG2	liver:	n/a	n/a
7	EP300	chr3:145236433-145236796	HepG2	liver:	n/a	n/a
8	EP300	chr3:145236518-145236661	HepG2	liver:	n/a	n/a
9	FOXA1	chr3:145235231-145235605	HepG2	liver:	n/a	n/a
10	FOXA1	chr3:145236346-145236824	HepG2	liver:	n/a	n/a
11	FOXA1	chr3:145236422-145236773	HepG2	liver:	n/a	n/a
12	FOXA1	chr3:145235138-145235628	HepG2	liver:	n/a	n/a
13	FOXA1	chr3:145235252-145235576	HepG2	liver:	n/a	n/a
14	FOXA1	chr3:145236282-145236822	HepG2	liver:	n/a	n/a
15	FOXA1	chr3:145235252-145235635	HepG2	liver:	n/a	n/a
16	FOXA1	chr3:145236391-145236793	HepG2	liver:	n/a	n/a
17	FOXA2	chr3:145236463-145236750	HepG2	liver:	n/a	n/a
18	FOXA2	chr3:145235219-145235545	HepG2	liver:	n/a	n/a
19	FOXA2	chr3:145236172-145237160	HepG2	liver:	n/a	chr3:145237067-145237079
20	HDAC2	chr3:145236425-145236717	HepG2	liver:	n/a	chr3:145236492-145236500
21	HNF4A	chr3:145236466-145236855	HepG2	liver:	n/a	chr3:145236641-145236656 chr3:145236642-145236650 chr3:145236642-145236654 chr3:145236641-145236656 chr3:145236487-145236499 chr3:145236642-145236654 chr3:145236487-145236500 chr3:145236640-145236655 chr3:145236487-145236499 chr3:145236641-145236655 chr3:145236571-145236583 chr3:145236487-145236500
22	HNF4A	chr3:145236425-145236818	HepG2	liver:	n/a	chr3:145236641-145236656 chr3:145236642-145236650 chr3:145236642-145236654 chr3:145236641-145236656 chr3:145236487-145236499 chr3:145236642-145236654 chr3:145236487-145236500 chr3:145236640-145236655 chr3:145236487-145236499 chr3:145236641-145236655 chr3:145236571-145236583 chr3:145236487-145236500
23	HNF4A	chr3:145236451-145236819	HepG2	liver:	n/a	chr3:145236641-145236656 chr3:145236642-145236650 chr3:145236642-145236654 chr3:145236641-145236656 chr3:145236487-145236499 chr3:145236642-145236654 chr3:145236487-145236500 chr3:145236640-145236655 chr3:145236487-145236499 chr3:145236641-145236655 chr3:145236571-145236583 chr3:145236487-145236500
24	HNF4G	chr3:145236432-145236820	HepG2	liver:	n/a	chr3:145236641-145236656 chr3:145236642-145236650 chr3:145236642-145236654 chr3:145236641-145236656 chr3:145236487-145236499 chr3:145236642-145236654 chr3:145236487-145236500 chr3:145236487-145236499 chr3:145236641-145236655 chr3:145236571-145236583 chr3:145236487-145236500
25	HNF4G	chr3:145236400-145236805	HepG2	liver:	n/a	chr3:145236641-145236656 chr3:145236642-145236650 chr3:145236642-145236654 chr3:145236641-145236656 chr3:145236487-145236499 chr3:145236642-145236654 chr3:145236487-145236500 chr3:145236487-145236499 chr3:145236641-145236655 chr3:145236571-145236583 chr3:145236487-145236500
26	MAFK	chr3:145236547-145236782	HepG2	liver:	n/a	n/a
27	MAFK	chr3:145236395-145236778	HepG2	liver:	n/a	n/a
28	MBD4	chr3:145236471-145236841	HepG2	liver:	n/a	n/a
29	MYBL2	chr3:145236343-145236931	HepG2	liver:	n/a	n/a
30	MYBL2	chr3:145236362-145236861	HepG2	liver:	n/a	n/a
31	NFIC	chr3:145236347-145236858	HepG2	liver:	n/a	n/a
32	NR2F2	chr3:145236319-145236838	MCF-7	breast:	n/a	n/a
33	NR2F2	chr3:145236256-145236834	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:145236204-145236865	SK-N-MC	brain:	n/a	n/a
35	RAD21	chr3:145236484-145236721	H1-hESC	embryonic stem cell:	n/a	n/a
36	RCOR1	chr3:145236566-145236767	HepG2	liver:	n/a	n/a
37	REST	chr3:145236494-145236794	HepG2	liver:	n/a	n/a
38	RXRA	chr3:145235315-145235530	HepG2	liver:	n/a	n/a
39	RXRA	chr3:145236490-145236697	HepG2	liver:	n/a	n/a
40	RXRA	chr3:145236475-145236732	HepG2	liver:	n/a	chr3:145236483-145236503
41	SP1	chr3:145236349-145236802	HepG2	liver:	n/a	n/a
42	TEAD4	chr3:145236456-145236810	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000244024	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183436312	chr3:145235556-145235557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578158480	chr3:145235566-145235567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142549217	chr3:145235584-145235585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558532052	chr3:145235602-145235603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57602193	chr3:145235618-145235619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115560073	chr3:145235626-145235627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560900657	chr3:145235637-145235638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187594167	chr3:145235658-145235659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547111424	chr3:145235660-145235661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372071028	chr3:145235664-145235665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571646143	chr3:145235686-145235687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62271795	chr3:145235694-145235695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62271796	chr3:145235717-145235718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569188574	chr3:145235781-145235782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386666726	chr3:145235801-145235802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79747603	chr3:145235806-145235807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141822239	chr3:145235810-145235811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575948609	chr3:145235930-145235931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375330606	chr3:145235934-145235935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374531328	chr3:145235939-145235940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376895007	chr3:145235951-145235952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143045592	chr3:145235952-145235953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148188017	chr3:145235963-145235964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201048505	chr3:145236000-145236001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199917956	chr3:145236001-145236002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368103157	chr3:145236014-145236015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371949511	chr3:145236016-145236017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199813251	chr3:145236024-145236025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191525982	chr3:145236029-145236030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201142488	chr3:145236035-145236036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561619469	chr3:145236041-145236042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375450785	chr3:145236042-145236043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183309694	chr3:145236043-145236044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201036131	chr3:145236057-145236058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377146489	chr3:145236072-145236073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565915880	chr3:145236073-145236074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569667407	chr3:145236076-145236077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369916530	chr3:145236079-145236080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374492900	chr3:145236080-145236081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376415936	chr3:145236082-145236083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116286452	chr3:145236083-145236084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532052371	chr3:145236087-145236088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73013038	chr3:145236158-145236159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369164248	chr3:145236200-145236201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34134862	chr3:145236246-145236247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562668844	chr3:145236325-145236326	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62271797	chr3:145236354-145236355	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373984324	chr3:145236377-145236378	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs370634339	chr3:145236413-145236414	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73872239	chr3:145236419-145236420	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145224600-145237400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:145232600-145236200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:145235200-145237800	Enhancers	HepG2	liver
4	chr3:145236200-145236800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:145236200-145236800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:145236200-145237200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:145236200-145237800	Enhancers	Liver	Liver
8	chr3:145236400-145237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:145236400-145237000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:145236400-145237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:145236400-145237200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:145236400-145237800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:145236400-145237800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:145236400-145238000	Enhancers	Cortex derived primary cultured neurospheres	brain

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