Variant report

Variant	esv2421640
Chromosome Location	chr11:25608546-25625889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:25623762-25623935	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:25623780-25623930	HPF	lung:	n/a	n/a
3	E2F4	chr11:25616132-25616392	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:25614816-25615134	SK-N-SH_RA	brain:	n/a	n/a
5	FOS	chr11:25618375-25618587	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:25618279-25618545	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:25618316-25618516	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:25609155-25609369	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
9	FOS	chr11:25609170-25609433	MCF10A-Er-Src	breast:	n/a	chr11:25609317-25609326 chr11:25609317-25609325 chr11:25609318-25609325 chr11:25609316-25609326
10	GATA2	chr11:25616883-25617244	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr11:25615099-25615162	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr11:25617089-25617252	SH-SY5Y	brain:	n/a	n/a
13	JUN	chr11:25623924-25623969	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr11:25623841-25624041	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr11:25618424-25618457	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFF	chr11:25625677-25625793	HepG2	liver:	n/a	n/a
17	MAFK	chr11:25625602-25625874	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
18	MAFK	chr11:25621890-25621907	HepG2	liver:	n/a	n/a
19	MAFK	chr11:25625682-25625872	HepG2	liver:	n/a	chr11:25625699-25625710 chr11:25625688-25625705
20	MAFK	chr11:25622010-25622185	HepG2	liver:	n/a	chr11:25622059-25622074
21	MAZ	chr11:25620210-25620338	HepG2	liver:	n/a	n/a
22	MXI1	chr11:25624466-25624499	Hela-S3	cervix:	n/a	n/a
23	NFYA	chr11:25623677-25624156	Hela-S3	cervix:	n/a	n/a
24	NFYA	chr11:25610902-25610992	GM12878	blood:	n/a	n/a
25	NFYB	chr11:25623981-25624181	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:25609383-25609505	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:25624917-25625079	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:25608872-25608893	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:25621813-25621827	GM12878	blood:	n/a	n/a
30	REST	chr11:25619641-25619817	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr11:25619651-25619866	H1-hESC	embryonic stem cell:	n/a	n/a
32	STAT3	chr11:25624731-25624931	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:25615629-25615732	MCF10A-Er-Src	breast:	n/a	chr11:25615671-25615682
34	TCF12	chr11:25614782-25615168	SK-N-SH	brain:	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	LNCaP	prostate:	n/a
2	chr11:25623877-25623927	SKMC	muscle:	n/a
3	chr11:25623877-25623927	RPTEC	kidney:	n/a
4	chr11:25623877-25623927	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:25623877-25623927	SK-N-SH_RA	brain:	n/a
6	chr11:25623877-25623927	Hela-S3	cervix:	n/a
7	chr11:25623877-25623927	SK-N-MC	brain:	n/a
8	chr11:25623877-25623927	NHDF-neo	bronchial:	n/a
9	chr11:25623877-25623927	NHBE	bronchial:	n/a
10	chr11:25623877-25623927	HEK293	kidney:	embryo
11	chr11:25623877-25623927	T-47D	breast:	n/a
12	chr11:25623877-25623927	PANC-1	pancreas:	n/a
13	chr11:25623877-25623927	HEEpiC	esophagus:	n/a
14	chr11:25623877-25623927	HNPCEpiC	eye:	n/a
15	chr11:25623877-25623927	PFSK-1	brain:	n/a
16	chr11:25623877-25623927	AoSMC	blood vessel:	n/a
17	chr11:25623877-25623927	HMEC	breast:	n/a
18	chr11:25623877-25623927	NH-A	brain:	n/a
19	chr11:25623877-25623927	H1-hESC	embryonic stem cell:	embryo
20	chr11:25623877-25623927	PrEC	prostate:	n/a
21	chr11:25623877-25623927	HUVEC	blood vessel:	n/a
22	chr11:25623877-25623927	HCPEpiC	choroid plexus:	n/a
23	chr11:25623877-25623927	HCT-116	colon:	n/a
24	chr11:25623877-25623927	SAEC	small airway:	n/a
25	chr11:25623877-25623927	MCF10A-Er-Src	breast:	n/a
26	chr11:25623877-25623927	HCM	heart:	n/a
27	chr11:25623877-25623927	CMK	blood:	n/a
28	chr11:25623877-25623927	HAEpiC	amniotic membrane:	n/a
29	chr11:25623877-25623927	AG09309	skin:	n/a
30	chr11:25623877-25623927	ProgFib	skin:	n/a
31	chr11:25623877-25623927	AG10803	skin:	n/a
32	chr11:25623877-25623927	GM12891	blood:	n/a
33	chr11:25623877-25623927	HRCEpiC	kidney:	n/a
34	chr11:25623877-25623927	U87	brain:	n/a
35	chr11:25623877-25623927	BE2_C	brain:	n/a
36	chr11:25623877-25623927	GM06990	blood:	n/a
37	chr11:25623877-25623927	AG04449	skin:	fetal
38	chr11:25623877-25623927	HL-60	blood:	n/a
39	chr11:25623877-25623927	IMR90	lung:	fetal
40	chr11:25623877-25623927	HepG2	liver:	n/a
41	chr11:25623877-25623927	ovcar-3	ovarian:	n/a
42	chr11:25623877-25623927	AG09319	gingival:	n/a
43	chr11:25623877-25623927	MCF-7	breast:	n/a
44	chr11:25623877-25623927	GM12892	blood:	n/a
45	chr11:25623877-25623927	Jurkat	blood:	n/a
46	chr11:25623877-25623927	A549	lung:	n/a
47	chr11:25623877-25623927	BJ	skin:	n/a
48	chr11:25623877-25623927	HIPEpiC	eye:	n/a
49	chr11:25623877-25623927	GM19239	blood:	n/a
50	chr11:25623877-25623927	SK-N-SH	brain:	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	chr11:25609802-25609808	NONHSAT018446
4	lnc-MUC15-3	chr11:25610021-25610389	NONHSAT018447

No data

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

Extended variants
information (count: 513 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12277867	chr11:25608611-25608612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541674746	chr11:25608615-25608616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553410416	chr11:25608635-25608636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148657139	chr11:25608636-25608637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190605886	chr11:25608666-25608667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181864310	chr11:25608724-25608725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60292024	chr11:25608854-25608855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368522952	chr11:25608863-25608864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73431352	chr11:25608883-25608884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543552325	chr11:25608898-25608899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36126742	chr11:25608908-25608909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72888560	chr11:25608963-25608964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114078417	chr11:25609003-25609004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561266243	chr11:25609009-25609010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547598764	chr11:25609016-25609017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565820412	chr11:25609044-25609045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186882156	chr11:25609047-25609048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548287229	chr11:25609135-25609136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569717824	chr11:25609200-25609201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537104466	chr11:25609208-25609209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552267687	chr11:25609229-25609230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570681294	chr11:25609266-25609267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534892697	chr11:25609267-25609268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553574203	chr11:25609271-25609272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189671320	chr11:25609307-25609308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536152734	chr11:25609321-25609322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73431354	chr11:25609322-25609323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181140120	chr11:25609402-25609403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543516113	chr11:25609427-25609428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564952509	chr11:25609432-25609433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142228748	chr11:25609437-25609438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546789371	chr11:25609443-25609444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540858063	chr11:25609475-25609476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559545194	chr11:25609563-25609564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374255588	chr11:25609583-25609584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529899001	chr11:25609606-25609607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76693305	chr11:25609628-25609629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7120740	chr11:25609681-25609682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550221357	chr11:25609688-25609689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61409333	chr11:25609692-25609693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60465735	chr11:25609699-25609700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151217671	chr11:25609711-25609712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570605014	chr11:25609732-25609733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185323565	chr11:25609770-25609771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375869033	chr11:25609777-25609778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35160723	chr11:25609802-25609803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs397774183	chr11:25609808-25609809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs568651310	chr11:25609820-25609821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535740222	chr11:25609864-25609865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557709739	chr11:25609865-25609866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:30 , 50 per page) page: 1

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

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