Variant report

Variant	esv2760212
Chromosome Location	chr11:25605844-25642425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:25630449-25630466	K562	blood:	n/a	n/a
2	BACH1	chr11:25623762-25623935	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:25607889-25608194	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:25636635-25637011	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:25623780-25623930	HPF	lung:	n/a	n/a
6	CTCF	chr11:25606859-25606882	GM20000	blood:	n/a	n/a
7	CTCF	chr11:25632967-25633016	LNCaP	prostate:	n/a	n/a
8	CTCF	chr11:25606896-25606899	GM20000	blood:	n/a	n/a
9	E2F4	chr11:25616132-25616392	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr11:25614816-25615134	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr11:25609170-25609433	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
12	FOS	chr11:25618279-25618545	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:25618375-25618587	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:25609155-25609369	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
15	FOS	chr11:25618316-25618516	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA2	chr11:25616883-25617244	SH-SY5Y	brain:	n/a	n/a
17	GATA2	chr11:25633662-25634223	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr11:25633758-25633881	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr11:25615099-25615162	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr11:25617089-25617252	SH-SY5Y	brain:	n/a	n/a
21	JUN	chr11:25623924-25623969	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr11:25618424-25618457	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr11:25623841-25624041	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFF	chr11:25607532-25607858	HepG2	liver:	n/a	chr11:25607677-25607695
25	MAFF	chr11:25625677-25625793	HepG2	liver:	n/a	n/a
26	MAFF	chr11:25607548-25607819	K562	blood:	n/a	chr11:25607677-25607695
27	MAFK	chr11:25607593-25607839	HepG2	liver:	n/a	n/a
28	MAFK	chr11:25607623-25607757	K562	blood:	n/a	n/a
29	MAFK	chr11:25621890-25621907	HepG2	liver:	n/a	n/a
30	MAFK	chr11:25607619-25607709	Hela-S3	cervix:	n/a	n/a
31	MAFK	chr11:25625682-25625872	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
32	MAFK	chr11:25622010-25622185	HepG2	liver:	n/a	chr11:25622059-25622074
33	MAFK	chr11:25607529-25607826	IMR90	lung:	n/a	n/a
34	MAFK	chr11:25625602-25625874	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
35	MAFK	chr11:25607531-25607866	HepG2	liver:	n/a	n/a
36	MAZ	chr11:25620210-25620338	HepG2	liver:	n/a	n/a
37	MXI1	chr11:25624466-25624499	Hela-S3	cervix:	n/a	n/a
38	MYC	chr11:25642178-25642631	A549	lung:	n/a	n/a
39	NFYA	chr11:25610902-25610992	GM12878	blood:	n/a	n/a
40	NFYA	chr11:25623677-25624156	Hela-S3	cervix:	n/a	n/a
41	NFYB	chr11:25623981-25624181	GM12878	blood:	n/a	n/a
42	NFYB	chr11:25641387-25641669	Hela-S3	cervix:	n/a	n/a
43	NRF1	chr11:25642244-25642771	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:25606521-25606657	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:25624917-25625079	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:25636692-25636727	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:25606601-25606604	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:25621813-25621827	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:25641653-25641711	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:25640616-25640688	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:25623877-25623927	HCM	heart:	n/a
2	chr11:25623877-25623927	HCPEpiC	choroid plexus:	n/a
3	chr11:25623877-25623927	HL-60	blood:	n/a
4	chr11:25623877-25623927	HRE	kidney:	n/a
5	chr11:25623877-25623927	LNCaP	prostate:	n/a
6	chr11:25623877-25623927	NH-A	brain:	n/a
7	chr11:25623877-25623927	MCF10A-Er-Src	breast:	n/a
8	chr11:25623877-25623927	NHDF-neo	bronchial:	n/a
9	chr11:25623877-25623927	BE2_C	brain:	n/a
10	chr11:25623877-25623927	SAEC	small airway:	n/a
11	chr11:25623877-25623927	A549	lung:	n/a
12	chr11:25623877-25623927	PrEC	prostate:	n/a
13	chr11:25623877-25623927	HRPEpiC	eye:	n/a
14	chr11:25623877-25623927	T-47D	breast:	n/a
15	chr11:25623877-25623927	GM12878	blood:	n/a
16	chr11:25623877-25623927	HRCEpiC	kidney:	n/a
17	chr11:25623877-25623927	RPTEC	kidney:	n/a
18	chr11:25623877-25623927	HIPEpiC	eye:	n/a
19	chr11:25623877-25623927	ECC-1	luminal epithelium:	n/a
20	chr11:25623877-25623927	H1-hESC	embryonic stem cell:	embryo
21	chr11:25623877-25623927	HUVEC	blood vessel:	n/a
22	chr11:25623877-25623927	HEEpiC	esophagus:	n/a
23	chr11:25623877-25623927	PANC-1	pancreas:	n/a
24	chr11:25623877-25623927	AG04450	lung:	fetal
25	chr11:25623877-25623927	AG09309	skin:	n/a
26	chr11:25623877-25623927	GM19239	blood:	n/a
27	chr11:25623877-25623927	HCT-116	colon:	n/a
28	chr11:25623877-25623927	IMR90	lung:	fetal
29	chr11:25623877-25623927	SK-N-SH	brain:	n/a
30	chr11:25623877-25623927	Caco-2	colon:	n/a
31	chr11:25623877-25623927	HMEC	breast:	n/a
32	chr11:25623877-25623927	HEK293	kidney:	embryo
33	chr11:25623877-25623927	NB4	blood:	n/a
34	chr11:25623877-25623927	Hela-S3	cervix:	n/a
35	chr11:25623877-25623927	ProgFib	skin:	n/a
36	chr11:25623877-25623927	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:25623877-25623927	HNPCEpiC	eye:	n/a
38	chr11:25623877-25623927	SK-N-SH_RA	brain:	n/a
39	chr11:25623877-25623927	HepG2	liver:	n/a
40	chr11:25623877-25623927	HCF	heart:	n/a
41	chr11:25623877-25623927	K562	blood:	n/a
42	chr11:25623877-25623927	GM12892	blood:	n/a
43	chr11:25623877-25623927	AG09319	gingival:	n/a
44	chr11:25623877-25623927	U87	brain:	n/a
45	chr11:25623877-25623927	AoSMC	blood vessel:	n/a
46	chr11:25623877-25623927	AG04449	skin:	fetal
47	chr11:25623877-25623927	Hepatocyte	liver:	n/a
48	chr11:25623877-25623927	AG10803	skin:	n/a
49	chr11:25623877-25623927	SK-N-MC	brain:	n/a
50	chr11:25623877-25623927	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC15-3	chr11:25609916-25610413	NONHSAT018446
2	lnc-MUC15-3	chr11:25610021-25610341	NONHSAT018448
3	lnc-MUC15-3	chr11:25610021-25610389	NONHSAT018447
4	lnc-MUC15-3	chr11:25609802-25609808	NONHSAT018446

No data

Variant related genes	Relation type
RPL36AP40	TF binding region
RPL36AP40	CpG island

Extended variants
information (count: 1101 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2896754	chr11:25605844-25605845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117389718	chr11:25605883-25605884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569998848	chr11:25605926-25605927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191096378	chr11:25605972-25605973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556575147	chr11:25605975-25605976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145233217	chr11:25605980-25605981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539195846	chr11:25606008-25606009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2028612	chr11:25606029-25606030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551354969	chr11:25606065-25606066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16925363	chr11:25606070-25606071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534432178	chr11:25606122-25606123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151032606	chr11:25606153-25606154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553075757	chr11:25606168-25606169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540121016	chr11:25606181-25606182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115453712	chr11:25606183-25606184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147615904	chr11:25606222-25606223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573880395	chr11:25606224-25606225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544576740	chr11:25606228-25606229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571008703	chr11:25606230-25606231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372600622	chr11:25606231-25606232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61897243	chr11:25606232-25606233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76449671	chr11:25606234-25606235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372294102	chr11:25606262-25606263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79360196	chr11:25606263-25606264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56764083	chr11:25606268-25606269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7129829	chr11:25606269-25606270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189038995	chr11:25606431-25606432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147652264	chr11:25606456-25606457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145536973	chr11:25606491-25606492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201753023	chr11:25606494-25606495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140888310	chr11:25606505-25606506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200523494	chr11:25606512-25606513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150154639	chr11:25606514-25606515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575516710	chr11:25606515-25606516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567934238	chr11:25606527-25606528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554873716	chr11:25606538-25606539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573424260	chr11:25606571-25606572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145472581	chr11:25606588-25606589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112252356	chr11:25606618-25606619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568516428	chr11:25606674-25606675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192980795	chr11:25606678-25606679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112222400	chr11:25606694-25606695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16914160	chr11:25606707-25606708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10734361	chr11:25606770-25606771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1348355	chr11:25606774-25606775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573868629	chr11:25606775-25606776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537795908	chr11:25606804-25606805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554812498	chr11:25606830-25606831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556547173	chr11:25606833-25606834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375116320	chr11:25606942-25606943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25599600-25608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:25603000-25610200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:25603000-25610200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:25608600-25609400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:25610000-25610400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:25610000-25610800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:25610200-25610600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:25610200-25610600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:25610200-25610800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:25610200-25610800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:25615000-25615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:25615600-25616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:25615800-25617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:25616000-25619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:25617400-25620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:25619200-25619600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:25619400-25619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:25619400-25619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:25619600-25623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:25619800-25623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:25620200-25623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:25623000-25623200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:25623400-25624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:25623400-25624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:25623400-25624400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:25623400-25624600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:25623800-25624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:25623800-25624000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:25624000-25624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:25624400-25624800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:25632000-25632400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:25632400-25637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:25633400-25637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:25633600-25635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:25634200-25634800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:25634200-25634800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:25634200-25634800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:25634200-25635600	Enhancers	Fetal Lung	lung
39	chr11:25634800-25636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:25635200-25640200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:25635600-25636600	Weak transcription	Fetal Lung	lung
42	chr11:25636400-25637800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr11:25636600-25636800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:25636600-25636800	Enhancers	Fetal Lung	lung
45	chr11:25636800-25637200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:25637000-25637200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:25637200-25637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:25637200-25637800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:25637200-25637800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:25637200-25637800	Enhancers	HUES64 Cell Line	embryonic stem cell

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