Variant report

Variant	esv3418224
Chromosome Location	chr3:97915908-97926340
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	BCL3	chr3:97916362-97916553	GM12878	blood:	n/a	n/a
2	CEBPB	chr3:97922385-97922691	A549	lung:	n/a	chr3:97922556-97922567
3	CEBPB	chr3:97922385-97922736	HepG2	liver:	n/a	chr3:97922556-97922567
4	CTCF	chr3:97924040-97924190	GM12869	blood:	n/a	n/a
5	CTCF	chr3:97916887-97916937	GM13976	blood:	n/a	n/a
6	CTCF	chr3:97926264-97926295	LNCaP	prostate:	n/a	n/a
7	E2F4	chr3:97925082-97925346	MCF10A-Er-Src	breast:	n/a	n/a
8	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
9	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
10	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
11	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
12	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
13	STAT3	chr3:97922297-97922656	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-6	chr3:97916789-97916922	NONHSAT090787
2	lnc-MINA-6	chr3:97925331-97925450	NONHSAT090787
3	lnc-MINA-6	chr3:97923366-97923509	NONHSAT090787

Variant related genes	Relation type
OR5H5P	TF binding region
OR5H3P	TF binding region

Extended variants
information (count: 684 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369417466	chr3:97915940-97915941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557906324	chr3:97915951-97915952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192385268	chr3:97915953-97915954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79237218	chr3:97915989-97915990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563937706	chr3:97915993-97915994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34749796	chr3:97915999-97916000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529637506	chr3:97916039-97916040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553633773	chr3:97916043-97916044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11706357	chr3:97916050-97916051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201880505	chr3:97916062-97916063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11706390	chr3:97916064-97916065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551612113	chr3:97916071-97916072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571094882	chr3:97916100-97916101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536813577	chr3:97916101-97916102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550380654	chr3:97916102-97916103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567174994	chr3:97916116-97916117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536163558	chr3:97916132-97916133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552926376	chr3:97916139-97916140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574324965	chr3:97916154-97916155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150811027	chr3:97916158-97916159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538708285	chr3:97916169-97916170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183384000	chr3:97916173-97916174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575427227	chr3:97916177-97916178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544004876	chr3:97916185-97916186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386663703	chr3:97916199-97916200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76421220	chr3:97916201-97916202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111866506	chr3:97916202-97916203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139771577	chr3:97916212-97916213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6765411	chr3:97916231-97916232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551377105	chr3:97916232-97916233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565007956	chr3:97916234-97916235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530913405	chr3:97916238-97916239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372526065	chr3:97916240-97916241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187699676	chr3:97916279-97916280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201140758	chr3:97916283-97916284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567166789	chr3:97916284-97916285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530000941	chr3:97916293-97916294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546608188	chr3:97916312-97916313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189870170	chr3:97916319-97916320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538223228	chr3:97916340-97916341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555254507	chr3:97916351-97916352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6765598	chr3:97916375-97916376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537949807	chr3:97916384-97916385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6768197	chr3:97916387-97916388	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6765605	chr3:97916391-97916392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145196191	chr3:97916400-97916401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553357050	chr3:97916413-97916414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573499560	chr3:97916415-97916416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544953200	chr3:97916416-97916417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564944604	chr3:97916420-97916421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97912600-97916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:97914400-97917600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:97914600-97917200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:97915200-97916200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:97915400-97916800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:97915600-97916400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:97916000-97916200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:97916200-97917000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:97916200-97917800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:97916400-97917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:97917200-97917800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:97917800-97918000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:97917800-97918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:97917800-97918600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr3:97917800-97927600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:97923600-97927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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