Variant report

Variant	esv3417473
Chromosome Location	chr2:114407582-114410680
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	chr2:114409629-114409827	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114410353-114410372	HepG2	liver:	n/a	n/a
3	FOS	chr2:114408295-114408655	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:114408100-114408660	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:114408397-114408606	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:114409051-114409250	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:114409211-114409232	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:114408092-114408770	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:114409048-114409398	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr2:114408129-114408571	HepG2	liver:	n/a	chr2:114408370-114408381 chr2:114408417-114408428
11	FOSL2	chr2:114408699-114409286	HepG2	liver:	n/a	chr2:114408978-114408989 chr2:114409029-114409040
12	FOSL2	chr2:114409441-114409986	HepG2	liver:	n/a	chr2:114409688-114409699 chr2:114409735-114409746
13	FOSL2	chr2:114408136-114408675	HepG2	liver:	n/a	chr2:114408370-114408381 chr2:114408417-114408428
14	FOSL2	chr2:114408796-114409252	HepG2	liver:	n/a	chr2:114408978-114408989 chr2:114409029-114409040
15	FOSL2	chr2:114409076-114409314	A549	lung:	n/a	n/a
16	FOSL2	chr2:114410557-114411316	HepG2	liver:	n/a	chr2:114410892-114410903 chr2:114410943-114410954
17	FOSL2	chr2:114410588-114410758	HepG2	liver:	n/a	n/a
18	FOSL2	chr2:114408339-114408578	A549	lung:	n/a	chr2:114408370-114408381 chr2:114408417-114408428
19	FOSL2	chr2:114409118-114409277	A549	lung:	n/a	n/a
20	FOSL2	chr2:114409473-114409907	HepG2	liver:	n/a	chr2:114409688-114409699 chr2:114409735-114409746
21	FOSL2	chr2:114410002-114410488	HepG2	liver:	n/a	chr2:114410241-114410252
22	FOSL2	chr2:114410028-114410508	HepG2	liver:	n/a	chr2:114410241-114410252
23	JUND	chr2:114410245-114410474	HepG2	liver:	n/a	chr2:114410391-114410402 chr2:114410344-114410355
24	JUND	chr2:114409501-114409825	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
25	JUND	chr2:114408408-114408505	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr2:114408893-114409111	HepG2	liver:	n/a	n/a
27	JUND	chr2:114409529-114409843	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
28	JUND	chr2:114408397-114408658	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr2:114408937-114409110	HepG2	liver:	n/a	n/a
30	JUND	chr2:114409965-114410286	A549	lung:	n/a	n/a
31	JUND	chr2:114410069-114410224	HepG2	liver:	n/a	n/a
32	JUND	chr2:114410045-114410225	HepG2	liver:	n/a	n/a
33	JUND	chr2:114408346-114408469	HepG2	liver:	n/a	n/a
34	JUND	chr2:114409614-114409769	HepG2	liver:	n/a	chr2:114409736-114409747 chr2:114409689-114409700
35	JUND	chr2:114409705-114409712	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr2:114410332-114410466	HepG2	liver:	n/a	chr2:114410391-114410402 chr2:114410344-114410355
37	MYC	chr2:114408417-114408494	MCF10A-Er-Src	breast:	n/a	n/a
38	NFIC	chr2:114408174-114408460	GM12878	blood:	n/a	n/a
39	NFIC	chr2:114408658-114408957	GM12878	blood:	n/a	n/a
40	NFIC	chr2:114409007-114409879	GM12878	blood:	n/a	n/a
41	PBX3	chr2:114408283-114408509	GM12878	blood:	n/a	n/a
42	PBX3	chr2:114410067-114410224	GM12878	blood:	n/a	n/a
43	PBX3	chr2:114409499-114409769	GM12878	blood:	n/a	n/a
44	PBX3	chr2:114408891-114409110	GM12878	blood:	n/a	n/a
45	PBX3	chr2:114408738-114408864	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:114408282-114408542	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:114410583-114410754	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr2:114408737-114409117	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:114410033-114410488	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:114409498-114409815	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114408097..114410441-chr2:114413674..114415542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144158	TF binding region
ENSG00000144158	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553647301	chr2:114407806-114407807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147890278	chr2:114407807-114407808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541841135	chr2:114407833-114407834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9808363	chr2:114407835-114407836	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs368612081	chr2:114407843-114407844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544000140	chr2:114407867-114407868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563893007	chr2:114407878-114407879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532971382	chr2:114407881-114407882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184155680	chr2:114407886-114407887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370401646	chr2:114407920-114407921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111593250	chr2:114408005-114408006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147858375	chr2:114408048-114408049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372740382	chr2:114408087-114408088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62158987	chr2:114408211-114408212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553089770	chr2:114408215-114408216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189955254	chr2:114408221-114408222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375005440	chr2:114408227-114408228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367579859	chr2:114408234-114408235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139277464	chr2:114408253-114408254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372076747	chr2:114408285-114408286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376910029	chr2:114408304-114408305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372610035	chr2:114408319-114408320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62158988	chr2:114408336-114408337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10208651	chr2:114408354-114408355	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537493411	chr2:114408355-114408356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545283008	chr2:114408357-114408358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71297198	chr2:114408370-114408371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551103038	chr2:114408394-114408395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184492037	chr2:114408411-114408412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571024644	chr2:114408433-114408434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369397174	chr2:114408438-114408439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181630404	chr2:114408441-114408442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558460340	chr2:114408442-114408443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185179866	chr2:114408455-114408456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555389292	chr2:114408468-114408469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77074734	chr2:114408485-114408486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375390614	chr2:114408500-114408501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10208805	chr2:114408507-114408508	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76424194	chr2:114408513-114408514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79782526	chr2:114408536-114408537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574897121	chr2:114408557-114408558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543864554	chr2:114408563-114408564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560572167	chr2:114408586-114408587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577393774	chr2:114408587-114408588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77259935	chr2:114408594-114408595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79499711	chr2:114408615-114408616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78837672	chr2:114408619-114408620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190521327	chr2:114408626-114408627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376469105	chr2:114408638-114408639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560177767	chr2:114408651-114408652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroticism	17667963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114407800-114408200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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