Variant report

Variant	esv3340940
Chromosome Location	chr3:97845804-97881306
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	BACH1	chr3:97859032-97859037	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr3:97856959-97857324	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:97873705-97874032	HepG2	liver:	n/a	chr3:97873850-97873861
4	CEBPB	chr3:97856954-97857153	K562	blood:	n/a	n/a
5	CTCF	chr3:97865477-97865502	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr3:97851715-97851794	GM10248	blood:	n/a	n/a
7	CTCF	chr3:97851742-97851790	Medullo	brain:	n/a	n/a
8	CTCF	chr3:97858890-97858990	Lung_OC	lung:	n/a	n/a
9	CTCF	chr3:97868196-97868256	GM13977	blood:	n/a	n/a
10	CTCF	chr3:97869056-97869117	GM10248	blood:	n/a	n/a
11	CTCF	chr3:97849179-97849211	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr3:97868287-97868395	Lung_OC	lung:	n/a	n/a
13	CTCF	chr3:97868194-97868279	GM10266	blood:	n/a	n/a
14	E2F4	chr3:97858339-97858507	MCF10A-Er-Src	breast:	n/a	n/a
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	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
17	FOS	chr3:97870123-97870337	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
18	FOS	chr3:97870223-97870394	MCF10A-Er-Src	breast:	n/a	chr3:97870231-97870240 chr3:97870231-97870241 chr3:97870233-97870240 chr3:97870232-97870241
19	FOSL2	chr3:97856871-97857111	HepG2	liver:	n/a	n/a
20	FOSL2	chr3:97856878-97857242	HepG2	liver:	n/a	n/a
21	GATA3	chr3:97856097-97856235	SH-SY5Y	brain:	n/a	n/a
22	HEY1	chr3:97856912-97857168	HepG2	liver:	n/a	n/a
23	IRF4	chr3:97856864-97857352	GM12878	blood:	n/a	n/a
24	IRF4	chr3:97856946-97857347	GM12878	blood:	n/a	n/a
25	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
26	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
27	MAFK	chr3:97864781-97864990	HepG2	liver:	n/a	n/a
28	MYC	chr3:97850254-97850257	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr3:97855607-97855634	NB4	blood:	n/a	n/a
30	NFYA	chr3:97873667-97873855	GM12878	blood:	n/a	n/a
31	PAX5	chr3:97856734-97857251	GM12878	blood:	n/a	n/a
32	PAX5	chr3:97856854-97857156	GM12878	blood:	n/a	n/a
33	PBX3	chr3:97856957-97857081	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:97862532-97862662	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:97863328-97863432	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr3:97858059-97858078	A549	lung:	n/a	n/a
37	POLR2A	chr3:97858742-97858815	ProgFib	skin:	n/a	n/a
38	POLR2A	chr3:97846242-97846319	MCF-7	breast:	n/a	n/a
39	POLR2A	chr3:97846240-97846277	MCF-7	breast:	n/a	n/a
40	POLR2A	chr3:97846216-97846219	A549	lung:	n/a	n/a
41	POLR2A	chr3:97873717-97873719	MCF10A-Er-Src	breast:	n/a	n/a
42	POU2F2	chr3:97856828-97857292	GM12891	blood:	n/a	n/a
43	RAD21	chr3:97847818-97847921	A549	lung:	n/a	n/a
44	REST	chr3:97856991-97857103	GM12878	blood:	n/a	n/a
45	RXRA	chr3:97856883-97857151	HepG2	liver:	n/a	n/a
46	SP1	chr3:97856787-97857252	HepG2	liver:	n/a	n/a
47	SP1	chr3:97856910-97857239	GM12878	blood:	n/a	n/a
48	SPI1	chr3:97876149-97876511	HL-60	blood:	n/a	chr3:97876278-97876291 chr3:97876277-97876290 chr3:97876354-97876367 chr3:97876280-97876287
49	SPI1	chr3:97876173-97876354	HL-60	blood:	n/a	chr3:97876278-97876291 chr3:97876277-97876290 chr3:97876280-97876287
50	SPI1	chr3:97856944-97857373	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97850378-97850428	AG09319	gingival:	n/a
2	chr3:97850862-97850912	GM12892	blood:	n/a
3	chr3:97852335-97852385	GM12892	blood:	n/a
4	chr3:97867758-97867808	AoSMC	blood vessel:	n/a
5	chr3:97867758-97867808	HEK293	kidney:	embryo
6	chr3:97867758-97867808	HEEpiC	esophagus:	n/a
7	chr3:97868656-97868706	HCM	heart:	n/a
8	chr3:97850378-97850428	BE2_C	brain:	n/a
9	chr3:97852335-97852385	NT2-D1	testis:	n/a
10	chr3:97850862-97850912	PANC-1	pancreas:	n/a
11	chr3:97867758-97867808	NHDF-neo	bronchial:	n/a
12	chr3:97850378-97850428	AG09309	skin:	n/a
13	chr3:97852335-97852385	HPAEpiC	pulmonary alveolar:	n/a
14	chr3:97850862-97850912	AoSMC	blood vessel:	n/a
15	chr3:97850862-97850912	HCT-116	colon:	n/a
16	chr3:97850862-97850912	HCPEpiC	choroid plexus:	n/a
17	chr3:97850378-97850428	HAEpiC	amniotic membrane:	n/a
18	chr3:97850862-97850912	AG09309	skin:	n/a
19	chr3:97850862-97850912	AG04449	skin:	fetal
20	chr3:97867758-97867808	HCPEpiC	choroid plexus:	n/a
21	chr3:97868656-97868706	MCF10A-Er-Src	breast:	n/a
22	chr3:97850862-97850912	PrEC	prostate:	n/a
23	chr3:97850378-97850428	HRPEpiC	eye:	n/a
24	chr3:97850378-97850428	SK-N-MC	brain:	n/a
25	chr3:97868656-97868706	HCF	heart:	n/a
26	chr3:97868656-97868706	AG09309	skin:	n/a
27	chr3:97850862-97850912	AG09319	gingival:	n/a
28	chr3:97850378-97850428	GM12891	blood:	n/a
29	chr3:97867758-97867808	HL-60	blood:	n/a
30	chr3:97867758-97867808	GM19239	blood:	n/a
31	chr3:97867758-97867808	HIPEpiC	eye:	n/a
32	chr3:97867758-97867808	GM12878	blood:	n/a
33	chr3:97850862-97850912	BJ	skin:	n/a
34	chr3:97868656-97868706	HRE	kidney:	n/a
35	chr3:97867758-97867808	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:97850378-97850428	AG04450	lung:	fetal
37	chr3:97868656-97868706	AG04449	skin:	fetal
38	chr3:97852335-97852385	H1-hESC	embryonic stem cell:	embryo
39	chr3:97852335-97852385	T-47D	breast:	n/a
40	chr3:97867758-97867808	PANC-1	pancreas:	n/a
41	chr3:97850862-97850912	SKMC	muscle:	n/a
42	chr3:97867758-97867808	HUVEC	blood vessel:	n/a
43	chr3:97852335-97852385	PFSK-1	brain:	n/a
44	chr3:97868656-97868706	HNPCEpiC	eye:	n/a
45	chr3:97868656-97868706	GM12892	blood:	n/a
46	chr3:97850862-97850912	SK-N-SH_RA	brain:	n/a
47	chr3:97852335-97852385	MCF10A-Er-Src	breast:	n/a
48	chr3:97852335-97852385	A549	lung:	n/a
49	chr3:97868656-97868706	CMK	blood:	n/a
50	chr3:97850862-97850912	HUVEC	blood vessel:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-1	chr3:97866885-97866978	ENSG00000249225.1

Variant related genes	Relation type
OR5H1	TF binding region
OR5H14	TF binding region
ENSG00000249225	TF binding region
OR5H1	CpG island
OR5H14	CpG island
ENSG00000249225	CpG island

Extended variants
information (count: 599 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572423630	chr3:97847822-97847823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549065702	chr3:97847872-97847873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541447068	chr3:97847874-97847875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567819161	chr3:97847914-97847915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529098747	chr3:97848070-97848071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542463438	chr3:97848081-97848082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561656609	chr3:97848084-97848085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371398589	chr3:97848089-97848090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528042220	chr3:97848094-97848095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551376571	chr3:97848104-97848105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564758156	chr3:97848121-97848122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145197871	chr3:97848146-97848147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs189056878	chr3:97848160-97848161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111493944	chr3:97848171-97848172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369391527	chr3:97848175-97848176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536059777	chr3:97848224-97848225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549658375	chr3:97848242-97848243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566393273	chr3:97848268-97848269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180795647	chr3:97848304-97848305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558116484	chr3:97848308-97848309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577990054	chr3:97848313-97848314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs537549387	chr3:97848327-97848328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs76112664	chr3:97848333-97848334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573458039	chr3:97848386-97848387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542428313	chr3:97848420-97848421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs369782885	chr3:97848729-97848730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4857326	chr3:97848744-97848745	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186491697	chr3:97848756-97848757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530473135	chr3:97848765-97848766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs79184170	chr3:97848778-97848779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148237259	chr3:97848792-97848793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536304806	chr3:97848814-97848815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs77006677	chr3:97848868-97848869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113563597	chr3:97849211-97849212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs553100811	chr3:97849840-97849841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182774714	chr3:97849886-97849887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538464884	chr3:97849924-97849925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527290205	chr3:97849930-97849931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201598608	chr3:97849977-97849978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577245106	chr3:97850009-97850010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370615540	chr3:97850010-97850011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544546735	chr3:97850026-97850027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540000646	chr3:97850385-97850386	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs139927332	chr3:97850390-97850391	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs370967053	chr3:97850392-97850393	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs184546879	chr3:97850393-97850394	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs113731870	chr3:97850400-97850401	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs138384879	chr3:97850407-97850408	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs532693453	chr3:97850412-97850413	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs374211758	chr3:97850421-97850422	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97855400-97855600	Enhancers	GM12878-XiMat	blood
2	chr3:97855800-97856800	Weak transcription	GM12878-XiMat	blood
3	chr3:97856800-97857400	Enhancers	GM12878-XiMat	blood
4	chr3:97857800-97858800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:97858200-97858400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:97858200-97858600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr3:97858200-97859200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:97858200-97859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:97858200-97859800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:97858200-97860000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:97858200-97866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:97858400-97858800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:97858800-97859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:97858800-97859600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:97859200-97859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:97859800-97860800	Enhancers	Fetal Brain Male	brain
17	chr3:97860000-97860200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:97870000-97870600	Enhancers	Fetal Heart	heart

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