Variant report

Variant	esv2761678
Chromosome Location	chr11:57768288-57810886
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	ATF1	chr11:57786761-57786770	K562	blood:	n/a	n/a
2	CEBPB	chr11:57792323-57792597	A549	lung:	n/a	n/a
3	CEBPB	chr11:57792272-57792577	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:57792402-57792641	H1-hESC	embryonic stem cell:	n/a	chr11:57792611-57792619
5	CEBPB	chr11:57792380-57792569	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:57794716-57795280	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:57807051-57807317	HepG2	liver:	n/a	n/a
8	CEBPB	chr11:57792340-57792631	K562	blood:	n/a	chr11:57792611-57792619
9	CEBPB	chr11:57792273-57792662	IMR90	lung:	n/a	chr11:57792611-57792619
10	CEBPB	chr11:57796019-57796719	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:57792288-57792657	HepG2	liver:	n/a	chr11:57792611-57792619
12	CTCF	chr11:57808161-57808246	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:57772180-57772330	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr11:57768852-57768902	GM13976	blood:	n/a	n/a
15	CTCF	chr11:57776720-57776870	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr11:57775077-57775146	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:57773284-57773310	Lung_OC	lung:	n/a	n/a
18	CTCF	chr11:57804297-57804347	GM13977	blood:	n/a	n/a
19	CTCF	chr11:57793821-57793891	Lung_OC	lung:	n/a	n/a
20	CTCF	chr11:57802558-57802614	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:57769476-57769531	GM20000	blood:	n/a	n/a
22	CTCF	chr11:57779628-57779656	Lung_OC	lung:	n/a	n/a
23	CTCF	chr11:57796137-57796156	Lung_OC	lung:	n/a	n/a
24	CTCF	chr11:57789280-57789430	NHEK	skin:	n/a	n/a
25	E2F4	chr11:57774523-57774710	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr11:57792287-57792553	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr11:57794966-57795033	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr11:57771977-57772535	HepG2	liver:	n/a	chr11:57772290-57772299 chr11:57772292-57772306
29	EP300	chr11:57792153-57792393	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr11:57776871-57776917	K562	blood:	n/a	n/a
31	EP300	chr11:57796082-57796506	HepG2	liver:	n/a	n/a
32	FOS	chr11:57795026-57795119	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:57770138-57770907	HUVEC	blood vessel:	n/a	chr11:57770319-57770330 chr11:57770678-57770687
34	FOS	chr11:57792177-57792499	MCF10A-Er-Src	breast:	n/a	chr11:57792327-57792338
35	FOS	chr11:57774475-57774815	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
36	FOS	chr11:57792232-57792349	MCF10A-Er-Src	breast:	n/a	chr11:57792327-57792338
37	FOS	chr11:57774434-57774823	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
38	FOS	chr11:57774448-57774812	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
39	FOS	chr11:57773121-57773313	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:57791962-57792481	HUVEC	blood vessel:	n/a	chr11:57792327-57792338
41	FOS	chr11:57774423-57774863	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
42	FOS	chr11:57794861-57795229	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr11:57792193-57792495	MCF10A-Er-Src	breast:	n/a	chr11:57792327-57792338
44	FOS	chr11:57773167-57773364	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr11:57794897-57795220	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr11:57774470-57774795	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
47	FOS	chr11:57794895-57795234	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr11:57772018-57772586	HUVEC	blood vessel:	n/a	n/a
49	FOSL2	chr11:57774440-57774778	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
50	FOXA1	chr11:57779146-57779535	HepG2	liver:	n/a	chr11:57779321-57779333

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57791564-57791614	ovcar-3	ovarian:	n/a
2	chr11:57791564-57791614	ovcar-3	ovarian:	n/a
3	chr11:57789944-57789994	BE2_C	brain:	n/a
4	chr11:57791564-57791614	HEK293	kidney:	embryo
5	chr11:57790918-57790968	SK-N-SH	brain:	n/a
6	chr11:57791564-57791614	NH-A	brain:	n/a
7	chr11:57789944-57789994	MCF10A-Er-Src	breast:	n/a
8	chr11:57798863-57798913	HNPCEpiC	eye:	n/a
9	chr11:57790202-57790252	SKMC	muscle:	n/a
10	chr11:57795433-57795483	CMK	blood:	n/a
11	chr11:57789944-57789994	Jurkat	blood:	n/a
12	chr11:57790918-57790968	Hela-S3	cervix:	n/a
13	chr11:57795433-57795483	AG04449	skin:	fetal
14	chr11:57792403-57792453	ProgFib	skin:	n/a
15	chr11:57790918-57790968	HCF	heart:	n/a
16	chr11:57789944-57789994	T-47D	breast:	n/a
17	chr11:57798863-57798913	HMEC	breast:	n/a
18	chr11:57789944-57789994	AG09309	skin:	n/a
19	chr11:57790918-57790968	NB4	blood:	n/a
20	chr11:57790918-57790968	GM12891	blood:	n/a
21	chr11:57790202-57790252	GM12892	blood:	n/a
22	chr11:57791564-57791614	RPTEC	kidney:	n/a
23	chr11:57790918-57790968	ProgFib	skin:	n/a
24	chr11:57795433-57795483	PANC-1	pancreas:	n/a
25	chr11:57791564-57791614	MCF-7	breast:	n/a
26	chr11:57795433-57795483	HMEC	breast:	n/a
27	chr11:57791564-57791614	GM19239	blood:	n/a
28	chr11:57790918-57790968	HAEpiC	amniotic membrane:	n/a
29	chr11:57790202-57790252	SK-N-SH_RA	brain:	n/a
30	chr11:57790202-57790252	RPTEC	kidney:	n/a
31	chr11:57792403-57792453	HUVEC	blood vessel:	n/a
32	chr11:57792403-57792453	K562	blood:	n/a
33	chr11:57789944-57789994	ovcar-3	ovarian:	n/a
34	chr11:57795433-57795483	ProgFib	skin:	n/a
35	chr11:57790918-57790968	Caco-2	colon:	n/a
36	chr11:57792403-57792453	HCF	heart:	n/a
37	chr11:57795433-57795483	HUVEC	blood vessel:	n/a
38	chr11:57791564-57791614	NHDF-neo	bronchial:	n/a
39	chr11:57791564-57791614	PFSK-1	brain:	n/a
40	chr11:57798863-57798913	A549	lung:	n/a
41	chr11:57791314-57791364	NH-A	brain:	n/a
42	chr11:57790202-57790252	PFSK-1	brain:	n/a
43	chr11:57798863-57798913	AG04450	lung:	fetal
44	chr11:57791564-57791614	HEEpiC	esophagus:	n/a
45	chr11:57798863-57798913	Jurkat	blood:	n/a
46	chr11:57791314-57791364	HL-60	blood:	n/a
47	chr11:57790918-57790968	MCF10A-Er-Src	breast:	n/a
48	chr11:57791314-57791364	H1-hESC	embryonic stem cell:	embryo
49	chr11:57798863-57798913	IMR90	lung:	fetal
50	chr11:57791564-57791614	AG09319	gingival:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR9Q1-1	chr11:57772858-57773177	NONHSAT021460

Variant related genes	Relation type
OR9Q1	TF binding region
VN2R9P	TF binding region
OR6Q1	TF binding region
RNU6-899P	TF binding region
CYCSP26	TF binding region
OR9Q1	CpG island
VN2R9P	CpG island
OR6Q1	CpG island
RNU6-899P	CpG island
CYCSP26	CpG island

Extended variants
information (count: 1467 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73474476	chr11:57768291-57768292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564347221	chr11:57768297-57768298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187747725	chr11:57768300-57768301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571440480	chr11:57768346-57768347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77494795	chr11:57768390-57768391	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372267492	chr11:57768400-57768401	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566194678	chr11:57768401-57768402	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536962308	chr11:57768464-57768465	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555167192	chr11:57768528-57768529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547520113	chr11:57768553-57768554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10750876	chr11:57768554-57768555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs558673002	chr11:57768571-57768572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191967043	chr11:57768586-57768587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540670992	chr11:57768605-57768606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538710883	chr11:57768626-57768627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558647150	chr11:57768628-57768629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143980141	chr11:57768632-57768633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544233283	chr11:57768663-57768664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541740780	chr11:57768705-57768706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528346538	chr11:57768722-57768723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80235804	chr11:57768775-57768776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530601124	chr11:57768838-57768839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538272389	chr11:57768845-57768846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148632710	chr11:57768855-57768856	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs141783711	chr11:57768861-57768862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs34015013	chr11:57768862-57768863	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575124390	chr11:57768887-57768888	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547433676	chr11:57768938-57768939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183883516	chr11:57769007-57769008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530302862	chr11:57769008-57769009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188530712	chr11:57769021-57769022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76474360	chr11:57769039-57769040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192074210	chr11:57769067-57769068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs207471929	chr11:57769104-57769105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114806512	chr11:57769113-57769114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12417244	chr11:57769160-57769161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534728700	chr11:57769199-57769200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554367157	chr11:57769247-57769248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12417258	chr11:57769303-57769304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532533962	chr11:57769350-57769351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146247629	chr11:57769407-57769408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556827374	chr11:57769414-57769415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200073289	chr11:57769432-57769433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575192268	chr11:57769449-57769450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139279176	chr11:57769459-57769460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4341559	chr11:57769462-57769463	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532466440	chr11:57769477-57769478	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs4620738	chr11:57769496-57769497	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370210562	chr11:57769541-57769542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559620900	chr11:57769572-57769573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57767800-57769000	Enhancers	HepG2	liver
2	chr11:57768600-57770600	Enhancers	HUVEC	blood vessel
3	chr11:57769000-57771800	Weak transcription	HepG2	liver
4	chr11:57769400-57771000	Enhancers	Left Ventricle	heart
5	chr11:57769800-57771000	Enhancers	Adipose Nuclei	Adipose
6	chr11:57770200-57770400	Enhancers	Right Atrium	heart
7	chr11:57770200-57771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:57770400-57772200	Weak transcription	Right Atrium	heart
9	chr11:57770600-57771000	Flanking Active TSS	HUVEC	blood vessel
10	chr11:57771000-57772600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:57771000-57772600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:57771000-57772600	Enhancers	HUVEC	blood vessel
13	chr11:57771000-57774200	Weak transcription	Left Ventricle	heart
14	chr11:57771800-57772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:57771800-57772600	Enhancers	HepG2	liver
16	chr11:57772200-57772400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:57772200-57772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57772200-57772600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:57772200-57772800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:57772200-57772800	Enhancers	Right Atrium	heart
21	chr11:57772400-57773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:57772400-57774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:57772600-57772800	Enhancers	Psoas Muscle	Psoas
24	chr11:57772600-57773000	Enhancers	Adipose Nuclei	Adipose
25	chr11:57772600-57773000	Flanking Active TSS	HUVEC	blood vessel
26	chr11:57772600-57773200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:57772600-57779000	Weak transcription	HepG2	liver
28	chr11:57772800-57773200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:57772800-57774200	Weak transcription	Right Atrium	heart
30	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
31	chr11:57773200-57774200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:57773200-57774400	Weak transcription	Psoas Muscle	Psoas
33	chr11:57773400-57773800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
37	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
39	chr11:57774200-57774800	Enhancers	Right Atrium	heart
40	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
41	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas
45	chr11:57774600-57774800	Enhancers	Adipose Nuclei	Adipose
46	chr11:57779000-57779800	Enhancers	HepG2	liver
47	chr11:57785600-57785800	Enhancers	Pancreas	Pancrea
48	chr11:57785800-57786000	Enhancers	Left Ventricle	heart
49	chr11:57785800-57791400	Weak transcription	Pancreas	Pancrea
50	chr11:57786000-57787200	Weak transcription	Left Ventricle	heart

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