Variant report

Variant	esv13073
Chromosome Location	chr3:97908878-97924741
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	ATF2	chr3:97915093-97915523	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr3:97916362-97916553	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:97922385-97922736	HepG2	liver:	n/a	chr3:97922556-97922567
4	CEBPB	chr3:97922385-97922691	A549	lung:	n/a	chr3:97922556-97922567
5	CTCF	chr3:97924040-97924190	GM12869	blood:	n/a	n/a
6	CTCF	chr3:97916887-97916937	GM13976	blood:	n/a	n/a
7	FOS	chr3:97917973-97918166	MCF10A-Er-Src	breast:	n/a	chr3:97918034-97918044 chr3:97918036-97918043 chr3:97918034-97918043 chr3:97918035-97918044 chr3:97918035-97918043
8	FOS	chr3:97917976-97918221	MCF10A-Er-Src	breast:	n/a	chr3:97918034-97918044 chr3:97918036-97918043 chr3:97918034-97918043 chr3:97918035-97918044 chr3:97918035-97918043
9	FOS	chr3:97917927-97918220	MCF10A-Er-Src	breast:	n/a	chr3:97918034-97918044 chr3:97918036-97918043 chr3:97918034-97918043 chr3:97918035-97918044 chr3:97918035-97918043
10	FOS	chr3:97917894-97918220	MCF10A-Er-Src	breast:	n/a	chr3:97918034-97918044 chr3:97918036-97918043 chr3:97918034-97918043 chr3:97918035-97918044 chr3:97918035-97918043
11	JUN	chr3:97915352-97915387	HepG2	liver:	n/a	chr3:97915361-97915374
12	JUND	chr3:97915173-97915518	HepG2	liver:	n/a	n/a
13	JUND	chr3:97917893-97918209	HepG2	liver:	n/a	chr3:97918034-97918044 chr3:97918036-97918043 chr3:97918034-97918043 chr3:97918035-97918044 chr3:97918033-97918044 chr3:97918035-97918043
14	JUND	chr3:97915192-97915544	H1-hESC	embryonic stem cell:	n/a	n/a
15	STAT3	chr3:97922297-97922656	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5H15-1	chr3:97915253-97915894	XLOC_002733
2	lnc-MINA-6	chr3:97916789-97916922	NONHSAT090787
3	lnc-OR5H15-1	chr3:97912268-97912342	XLOC_002733
4	lnc-OR5H15-1	chr3:97915250-97915894	XLOC_002733
5	lnc-MINA-6	chr3:97923366-97923509	NONHSAT090787
6	lnc-OR5H15-1	chr3:97910049-97910454	XLOC_002733
7	lnc-OR5H15-1	chr3:97910049-97910454	XLOC_002733
8	lnc-OR5H15-1	chr3:97912268-97912342	XLOC_002733

Variant related genes	Relation type
OR5H5P	TF binding region
OR5H3P	TF binding region
TGFB2	miRNA target sites
FAM46C	miRNA target sites
LYPD3	miRNA target sites

Extended variants
information (count: 1080 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533202418	chr3:97908885-97908886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3828459	chr3:97908900-97908901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563470204	chr3:97908907-97908908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3828458	chr3:97908921-97908922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562999931	chr3:97908926-97908927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3828457	chr3:97908931-97908932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545063889	chr3:97908954-97908955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3842581	chr3:97908976-97908977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34733629	chr3:97908979-97908980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112084009	chr3:97909007-97909008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3828456	chr3:97909022-97909023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78208574	chr3:97909031-97909032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141690793	chr3:97909046-97909047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386663683	chr3:97909072-97909073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113669947	chr3:97909073-97909074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3828454	chr3:97909074-97909075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs3828453	chr3:97909088-97909089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570218110	chr3:97909116-97909117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3828452	chr3:97909125-97909126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555750863	chr3:97909132-97909133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539763769	chr3:97909134-97909135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188524926	chr3:97909141-97909142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150502251	chr3:97909161-97909162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13071373	chr3:97909192-97909193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577753409	chr3:97909197-97909198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543218942	chr3:97909198-97909199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563522333	chr3:97909210-97909211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13094850	chr3:97909213-97909214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542919971	chr3:97909235-97909236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139477238	chr3:97909242-97909243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370897778	chr3:97909251-97909252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555467942	chr3:97909275-97909276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386663684	chr3:97909341-97909342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71617846	chr3:97909347-97909348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530642876	chr3:97909349-97909350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73853289	chr3:97909350-97909351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76523533	chr3:97909351-97909352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150057611	chr3:97909353-97909354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549737436	chr3:97909374-97909375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13095222	chr3:97909404-97909405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59641124	chr3:97909405-97909406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80035922	chr3:97909413-97909414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369069644	chr3:97909414-97909415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112958361	chr3:97909436-97909437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13071754	chr3:97909446-97909447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537555851	chr3:97909456-97909457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116704613	chr3:97909499-97909500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573821486	chr3:97909500-97909501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386663686	chr3:97909502-97909503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13099965	chr3:97909503-97909504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97907000-97910200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:97908400-97910000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:97908800-97910800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:97910000-97912200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:97910200-97910400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:97910200-97910800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:97910400-97913600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:97910800-97911400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:97910800-97913800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr3:97911400-97911600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:97911600-97912000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:97912000-97912600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:97912200-97914600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr3:97912600-97916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:97913600-97913800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:97913600-97914400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:97913800-97915400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:97914400-97917600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:97914600-97917200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:97915200-97916200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:97915400-97916800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:97915600-97916400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:97916000-97916200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:97916200-97917000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:97916200-97917800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:97916400-97917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:97917200-97917800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:97917800-97918000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:97917800-97918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:97917800-97918600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:97917800-97927600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:97923600-97927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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