Variant report

Variant	nsv437708
Chromosome Location	chr11:25569848-25630858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

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	chr11:25581962-25582274	HepG2	liver:	n/a	chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582116-25582129 chr11:25582116-25582129 chr11:25582116-25582127 chr11:25582117-25582128
4	CEBPB	chr11:25588146-25588479	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:25588189-25588366	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:25588263-25588319	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:25588119-25588837	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:25607889-25608194	HepG2	liver:	n/a	n/a
9	CTCF	chr11:25606896-25606899	GM20000	blood:	n/a	n/a
10	CTCF	chr11:25606859-25606882	GM20000	blood:	n/a	n/a
11	CTCF	chr11:25623780-25623930	HPF	lung:	n/a	n/a
12	E2F4	chr11:25616132-25616392	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr11:25614816-25615134	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr11:25583955-25584358	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr11:25583776-25584650	SK-N-SH	brain:	n/a	n/a
16	EP300	chr11:25588134-25588529	Hela-S3	cervix:	n/a	n/a
17	EP300	chr11:25583929-25584305	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr11:25609170-25609433	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
19	FOS	chr11:25588215-25588423	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:25618279-25618545	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:25609155-25609369	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
22	FOS	chr11:25618375-25618587	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:25618316-25618516	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA2	chr11:25583944-25584276	SH-SY5Y	brain:	n/a	n/a
25	GATA2	chr11:25616883-25617244	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr11:25617089-25617252	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:25584073-25584272	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr11:25615099-25615162	SH-SY5Y	brain:	n/a	n/a
29	JUN	chr11:25623924-25623969	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr11:25618424-25618457	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr11:25623841-25624041	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAFF	chr11:25607548-25607819	K562	blood:	n/a	chr11:25607677-25607695
33	MAFF	chr11:25607532-25607858	HepG2	liver:	n/a	chr11:25607677-25607695
34	MAFF	chr11:25625677-25625793	HepG2	liver:	n/a	n/a
35	MAFK	chr11:25625682-25625872	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
36	MAFK	chr11:25584969-25584992	HepG2	liver:	n/a	n/a
37	MAFK	chr11:25583428-25583467	K562	blood:	n/a	n/a
38	MAFK	chr11:25607593-25607839	HepG2	liver:	n/a	n/a
39	MAFK	chr11:25607529-25607826	IMR90	lung:	n/a	n/a
40	MAFK	chr11:25607619-25607709	Hela-S3	cervix:	n/a	n/a
41	MAFK	chr11:25607623-25607757	K562	blood:	n/a	n/a
42	MAFK	chr11:25622010-25622185	HepG2	liver:	n/a	chr11:25622059-25622074
43	MAFK	chr11:25607531-25607866	HepG2	liver:	n/a	n/a
44	MAFK	chr11:25625602-25625874	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
45	MAFK	chr11:25621890-25621907	HepG2	liver:	n/a	n/a
46	MAZ	chr11:25578700-25578851	HepG2	liver:	n/a	n/a
47	MAZ	chr11:25620210-25620338	HepG2	liver:	n/a	n/a
48	MAZ	chr11:25582317-25582484	HepG2	liver:	n/a	n/a
49	MXI1	chr11:25624466-25624499	Hela-S3	cervix:	n/a	n/a
50	MYC	chr11:25588303-25588388	NB4	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	SK-N-SH_RA	brain:	n/a
2	chr11:25623877-25623927	Caco-2	colon:	n/a
3	chr11:25623877-25623927	CMK	blood:	n/a
4	chr11:25623877-25623927	SK-N-SH	brain:	n/a
5	chr11:25623877-25623927	NHDF-neo	bronchial:	n/a
6	chr11:25623877-25623927	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:25623877-25623927	Jurkat	blood:	n/a
8	chr11:25623877-25623927	MCF10A-Er-Src	breast:	n/a
9	chr11:25623877-25623927	PANC-1	pancreas:	n/a
10	chr11:25623877-25623927	HAEpiC	amniotic membrane:	n/a
11	chr11:25623877-25623927	AG10803	skin:	n/a
12	chr11:25623877-25623927	HRPEpiC	eye:	n/a
13	chr11:25623877-25623927	Hela-S3	cervix:	n/a
14	chr11:25623877-25623927	HEEpiC	esophagus:	n/a
15	chr11:25623877-25623927	K562	blood:	n/a
16	chr11:25623877-25623927	HEK293	kidney:	embryo
17	chr11:25623877-25623927	HL-60	blood:	n/a
18	chr11:25623877-25623927	AoSMC	blood vessel:	n/a
19	chr11:25623877-25623927	ProgFib	skin:	n/a
20	chr11:25623877-25623927	AG09319	gingival:	n/a
21	chr11:25623877-25623927	SAEC	small airway:	n/a
22	chr11:25623877-25623927	ovcar-3	ovarian:	n/a
23	chr11:25623877-25623927	LNCaP	prostate:	n/a
24	chr11:25623877-25623927	HIPEpiC	eye:	n/a
25	chr11:25623877-25623927	H1-hESC	embryonic stem cell:	embryo
26	chr11:25623877-25623927	GM19239	blood:	n/a
27	chr11:25623877-25623927	HCF	heart:	n/a
28	chr11:25623877-25623927	SKMC	muscle:	n/a
29	chr11:25623877-25623927	BJ	skin:	n/a
30	chr11:25623877-25623927	ECC-1	luminal epithelium:	n/a
31	chr11:25623877-25623927	Hepatocyte	liver:	n/a
32	chr11:25623877-25623927	GM12892	blood:	n/a
33	chr11:25623877-25623927	AG09309	skin:	n/a
34	chr11:25623877-25623927	NH-A	brain:	n/a
35	chr11:25623877-25623927	AG04449	skin:	fetal
36	chr11:25623877-25623927	T-47D	breast:	n/a
37	chr11:25623877-25623927	GM06990	blood:	n/a
38	chr11:25623877-25623927	HNPCEpiC	eye:	n/a
39	chr11:25623877-25623927	HUVEC	blood vessel:	n/a
40	chr11:25623877-25623927	RPTEC	kidney:	n/a
41	chr11:25623877-25623927	HRE	kidney:	n/a
42	chr11:25623877-25623927	PFSK-1	brain:	n/a
43	chr11:25623877-25623927	NB4	blood:	n/a
44	chr11:25623877-25623927	GM12891	blood:	n/a
45	chr11:25623877-25623927	HCPEpiC	choroid plexus:	n/a
46	chr11:25623877-25623927	A549	lung:	n/a
47	chr11:25623877-25623927	GM12878	blood:	n/a
48	chr11:25623877-25623927	BE2_C	brain:	n/a
49	chr11:25623877-25623927	HCT-116	colon:	n/a
50	chr11:25623877-25623927	HRCEpiC	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:
2	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:
3	chr11:25576575..25578534-chr11:25581809..25585257,3	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: 1637 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1838075	chr11:25569848-25569849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552420541	chr11:25569849-25569850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191104561	chr11:25569906-25569907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150916731	chr11:25569954-25569955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553207243	chr11:25569967-25569968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527645072	chr11:25569968-25569969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139397734	chr11:25569979-25569980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183680286	chr11:25569982-25569983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17308092	chr11:25570017-25570018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576946151	chr11:25570052-25570053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188684340	chr11:25570068-25570069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541231099	chr11:25570077-25570078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149570912	chr11:25570085-25570086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193001248	chr11:25570142-25570143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183613622	chr11:25570163-25570164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535947019	chr11:25570194-25570195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533649943	chr11:25579214-25579215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545742378	chr11:25579215-25579216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564066054	chr11:25579221-25579222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528131536	chr11:25579273-25579274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576517602	chr11:25579277-25579278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114562063	chr11:25579310-25579311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375105753	chr11:25579341-25579342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537117930	chr11:25579353-25579354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142567542	chr11:25579436-25579437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191338600	chr11:25579462-25579463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539327844	chr11:25579474-25579475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557677786	chr11:25579526-25579527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566519641	chr11:25579537-25579538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555366385	chr11:25579550-25579551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139386947	chr11:25581032-25581033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17242335	chr11:25581065-25581066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7120268	chr11:25581074-25581075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181168674	chr11:25581092-25581093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554393513	chr11:25581109-25581110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566172231	chr11:25581122-25581123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77268413	chr11:25581132-25581133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7120522	chr11:25581159-25581160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141875787	chr11:25581176-25581177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184402342	chr11:25581185-25581186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189291696	chr11:25581195-25581196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112577126	chr11:25581220-25581221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577303613	chr11:25581245-25581246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182134152	chr11:25581277-25581278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368990443	chr11:25581316-25581317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16914139	chr11:25581337-25581338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527532220	chr11:25581338-25581339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542863031	chr11:25581351-25581352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75469998	chr11:25581391-25581392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531705544	chr11:25581393-25581394	Enhancers	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25569000-25570200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr11:25569600-25570200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:25569600-25570200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:25569800-25570200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:25579200-25579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:25581000-25581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:25581000-25581800	Enhancers	NHEK	skin
8	chr11:25581400-25586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:25581800-25587800	Weak transcription	NHEK	skin
10	chr11:25583600-25585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:25584000-25584400	Enhancers	Fetal Heart	heart
12	chr11:25584200-25584600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:25585000-25586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:25586400-25591200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:25586800-25587000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:25586800-25589600	Enhancers	HMEC	breast
17	chr11:25587000-25587400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:25587400-25589000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:25587600-25588600	Enhancers	Ovary	ovary
20	chr11:25587600-25589000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:25587600-25589400	Enhancers	Dnd41	blood
22	chr11:25587600-25589400	Enhancers	Hela-S3	cervix
23	chr11:25587800-25589000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:25587800-25589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:25587800-25589200	Enhancers	NHEK	skin
26	chr11:25587800-25590400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:25590400-25598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:25591200-25592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:25592400-25592800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:25592800-25599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:25596600-25599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:25596600-25600000	Enhancers	NHEK	skin
33	chr11:25597200-25599600	Enhancers	HMEC	breast
34	chr11:25598000-25599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:25598000-25603000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:25598200-25600600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:25598800-25599800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:25598800-25599800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:25598800-25600800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr11:25598800-25600800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:25598800-25601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr11:25599200-25599400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:25599200-25600600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:25599400-25599600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:25599400-25599600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:25599400-25601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:25599600-25601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:25599600-25608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:25599800-25600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:25600200-25600600	Enhancers	HUES6 Cell Line	embryonic stem cell

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