Variant report

Variant	esv3512266
Chromosome Location	chr3:97868364-97887899
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	CEBPB	chr3:97873705-97874032	HepG2	liver:	n/a	chr3:97873850-97873861
2	CTCF	chr3:97887528-97887558	GM10266	blood:	n/a	n/a
3	CTCF	chr3:97884129-97884304	HepG2	liver:	n/a	n/a
4	CTCF	chr3:97884218-97884248	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:97882688-97882729	GM10248	blood:	n/a	n/a
6	CTCF	chr3:97868287-97868395	Lung_OC	lung:	n/a	n/a
7	CTCF	chr3:97869056-97869117	GM10248	blood:	n/a	n/a
8	CTCF	chr3:97887450-97887549	Medullo	brain:	n/a	n/a
9	CTCF	chr3:97884135-97884303	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr3:97884207-97884295	HepG2	liver:	n/a	n/a
11	CTCF	chr3:97884180-97884330	HepG2	liver:	n/a	n/a
12	FOS	chr3:97870123-97870337	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
13	FOS	chr3:97870109-97870426	MCF10A-Er-Src	breast:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
14	FOS	chr3:97870223-97870394	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
15	FOS	chr3:97870114-97870399	MCF10A-Er-Src	breast:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
16	FOXA1	chr3:97885429-97885735	T-47D	breast:	n/a	n/a
17	FOXA1	chr3:97884094-97884386	HepG2	liver:	n/a	n/a
18	FOXA1	chr3:97883878-97884461	HepG2	liver:	n/a	n/a
19	FOXA1	chr3:97884116-97884437	HepG2	liver:	n/a	n/a
20	FOXA2	chr3:97884127-97884371	HepG2	liver:	n/a	n/a
21	JUND	chr3:97870047-97870402	HepG2	liver:	n/a	chr3:97870114-97870123 chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870230-97870241 chr3:97870232-97870241
22	JUND	chr3:97884273-97884415	HepG2	liver:	n/a	n/a
23	MAFK	chr3:97874784-97875019	HepG2	liver:	n/a	chr3:97874923-97874939 chr3:97874928-97874939 chr3:97874928-97874939 chr3:97874927-97874938 chr3:97874927-97874938 chr3:97874926-97874940
24	NFYA	chr3:97873667-97873855	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:97881652-97881656	A549	lung:	n/a	n/a
26	POLR2A	chr3:97873717-97873719	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr3:97887487-97887525	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr3:97881950-97882071	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr3:97884108-97884333	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr3:97884057-97884404	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr3:97884113-97884360	HepG2	liver:	n/a	n/a
32	RAD21	chr3:97884112-97884312	H1-hESC	embryonic stem cell:	n/a	n/a
33	RXRA	chr3:97884021-97884408	HepG2	liver:	n/a	n/a
34	SP1	chr3:97883988-97884430	HepG2	liver:	n/a	n/a
35	SPI1	chr3:97876173-97876354	HL-60	blood:	n/a	chr3:97876278-97876291 chr3:97876277-97876290 chr3:97876280-97876287
36	SPI1	chr3:97876149-97876511	HL-60	blood:	n/a	chr3:97876278-97876291 chr3:97876277-97876290 chr3:97876354-97876367 chr3:97876280-97876287
37	STAT3	chr3:97870516-97870541	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr3:97882957-97883157	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr3:97880558-97880753	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97886467-97886517	AG04450	lung:	fetal
2	chr3:97886467-97886517	T-47D	breast:	n/a
3	chr3:97886603-97886653	HCM	heart:	n/a
4	chr3:97887864-97887914	H1-hESC	embryonic stem cell:	embryo
5	chr3:97868656-97868706	PrEC	prostate:	n/a
6	chr3:97886603-97886653	MCF10A-Er-Src	breast:	n/a
7	chr3:97886603-97886653	Caco-2	colon:	n/a
8	chr3:97886467-97886517	LNCaP	prostate:	n/a
9	chr3:97886467-97886517	GM12891	blood:	n/a
10	chr3:97887864-97887914	MCF10A-Er-Src	breast:	n/a
11	chr3:97886467-97886517	MCF-7	breast:	n/a
12	chr3:97887864-97887914	SAEC	small airway:	n/a
13	chr3:97868656-97868706	PFSK-1	brain:	n/a
14	chr3:97886467-97886517	H1-hESC	embryonic stem cell:	embryo
15	chr3:97886603-97886653	SKMC	muscle:	n/a
16	chr3:97887864-97887914	GM12878	blood:	n/a
17	chr3:97886467-97886517	AoSMC	blood vessel:	n/a
18	chr3:97886467-97886517	HepG2	liver:	n/a
19	chr3:97886603-97886653	AG10803	skin:	n/a
20	chr3:97886467-97886517	NHDF-neo	bronchial:	n/a
21	chr3:97887864-97887914	HIPEpiC	eye:	n/a
22	chr3:97886603-97886653	NT2-D1	testis:	n/a
23	chr3:97868656-97868706	HNPCEpiC	eye:	n/a
24	chr3:97886467-97886517	GM19239	blood:	n/a
25	chr3:97887864-97887914	SK-N-SH	brain:	n/a
26	chr3:97886603-97886653	GM06990	blood:	n/a
27	chr3:97886603-97886653	HEK293	kidney:	embryo
28	chr3:97868656-97868706	HCF	heart:	n/a
29	chr3:97886603-97886653	NHBE	bronchial:	n/a
30	chr3:97887864-97887914	HRE	kidney:	n/a
31	chr3:97887864-97887914	SK-N-SH_RA	brain:	n/a
32	chr3:97887864-97887914	AG04449	skin:	fetal
33	chr3:97886467-97886517	HEEpiC	esophagus:	n/a
34	chr3:97886603-97886653	HCPEpiC	choroid plexus:	n/a
35	chr3:97886467-97886517	MCF10A-Er-Src	breast:	n/a
36	chr3:97868656-97868706	HRPEpiC	eye:	n/a
37	chr3:97886467-97886517	ovcar-3	ovarian:	n/a
38	chr3:97886467-97886517	HEK293	kidney:	embryo
39	chr3:97886467-97886517	HCPEpiC	choroid plexus:	n/a
40	chr3:97886467-97886517	Caco-2	colon:	n/a
41	chr3:97886603-97886653	AG09309	skin:	n/a
42	chr3:97887864-97887914	AG09319	gingival:	n/a
43	chr3:97886467-97886517	HUVEC	blood vessel:	n/a
44	chr3:97868656-97868706	ProgFib	skin:	n/a
45	chr3:97886467-97886517	HAEpiC	amniotic membrane:	n/a
46	chr3:97887864-97887914	U87	brain:	n/a
47	chr3:97887864-97887914	HAEpiC	amniotic membrane:	n/a
48	chr3:97868656-97868706	NHDF-neo	bronchial:	n/a
49	chr3:97886603-97886653	U87	brain:	n/a
50	chr3:97886603-97886653	PFSK-1	brain:	n/a

Variant related genes	Relation type
OR5H15	TF binding region
ENSG00000249225	TF binding region
OR5H15	CpG island
ENSG00000249225	CpG island

Extended variants
information (count: 136 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146466887	chr3:97868389-97868390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143765725	chr3:97868391-97868392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146577101	chr3:97868656-97868657	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs149145758	chr3:97868657-97868658	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs377657013	chr3:97868665-97868666	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs148337288	chr3:97868670-97868671	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs374940876	chr3:97868673-97868674	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs145464091	chr3:97868675-97868676	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs528002845	chr3:97868677-97868678	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs78410857	chr3:97868683-97868684	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs368007526	chr3:97868690-97868691	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs181133249	chr3:97868703-97868704	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs139547938	chr3:97869057-97869058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558065491	chr3:97869072-97869073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576225122	chr3:97869074-97869075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146590101	chr3:97869081-97869082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537017257	chr3:97869091-97869092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200087240	chr3:97869102-97869103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150754881	chr3:97869103-97869104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75547468	chr3:97869111-97869112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201012706	chr3:97869114-97869115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs371516937	chr3:97869115-97869116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs530645977	chr3:97870031-97870032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79981228	chr3:97870036-97870037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554620239	chr3:97870040-97870041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561133970	chr3:97870051-97870052	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7643971	chr3:97870071-97870072	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546572499	chr3:97870085-97870086	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77106849	chr3:97870098-97870099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs56107655	chr3:97870099-97870100	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538716793	chr3:97870118-97870119	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374374766	chr3:97870140-97870141	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7611304	chr3:97870172-97870173	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571787144	chr3:97870174-97870175	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73131402	chr3:97870180-97870181	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs75147605	chr3:97870182-97870183	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573951108	chr3:97870195-97870196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536598044	chr3:97870228-97870229	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553324984	chr3:97870234-97870235	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573190861	chr3:97870271-97870272	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs545463128	chr3:97870297-97870298	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs565207058	chr3:97870308-97870309	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72929909	chr3:97870325-97870326	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs72929910	chr3:97870331-97870332	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561065109	chr3:97870353-97870354	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530012776	chr3:97870376-97870377	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143277512	chr3:97870387-97870388	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs151286133	chr3:97870418-97870419	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs72929912	chr3:97870422-97870423	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371155077	chr3:97870445-97870446	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Chordoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97870000-97870600	Enhancers	Fetal Heart	heart

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