Variant report

Variant	nsv976450
Chromosome Location	chr11:23521519-23540267
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	CEBPB	chr11:23536080-23536324	HepG2	liver:	n/a	chr11:23536181-23536192
2	CEBPB	chr11:23535734-23535834	HepG2	liver:	n/a	n/a
3	CTCF	chr11:23521483-23521565	LNCaP	prostate:	n/a	n/a
4	E2F4	chr11:23530650-23530905	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:23530616-23530935	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:23530602-23530947	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:23530645-23530935	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:23530495-23531041	HUVEC	blood vessel:	n/a	n/a
9	GATA2	chr11:23530479-23531168	HUVEC	blood vessel:	n/a	n/a
10	GATA3	chr11:23524375-23524494	SH-SY5Y	brain:	n/a	n/a
11	JUND	chr11:23536052-23536242	HepG2	liver:	n/a	n/a
12	MAFK	chr11:23538585-23538736	HepG2	liver:	n/a	n/a
13	MAFK	chr11:23522902-23523023	HepG2	liver:	n/a	n/a
14	MAFK	chr11:23530636-23530980	IMR90	lung:	n/a	n/a
15	MAZ	chr11:23527614-23527664	HepG2	liver:	n/a	n/a
16	MAZ	chr11:23538392-23538573	HepG2	liver:	n/a	n/a
17	MXI1	chr11:23531509-23531586	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:23529123-23529224	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:23530621-23530949	U87	brain:	n/a	n/a
20	POLR2A	chr11:23532145-23532188	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:23537104-23537134	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:23532820-23532918	ProgFib	skin:	n/a	n/a
23	POLR2A	chr11:23527330-23527388	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:23530582-23530943	U87	brain:	n/a	n/a
25	STAT1	chr11:23536777-23536806	GM12878	blood:	n/a	n/a
26	STAT3	chr11:23534860-23535038	MCF10A-Er-Src	breast:	n/a	n/a
27	UBTF	chr11:23522607-23522646	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000240881	TF binding region

Extended variants
information (count: 457 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551052877	chr11:23524498-23524499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17306622	chr11:23524507-23524508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs16911433	chr11:23524536-23524537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10741982	chr11:23524554-23524555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77547282	chr11:23524572-23524573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368574386	chr11:23524635-23524636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193127984	chr11:23524647-23524648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576962228	chr11:23524696-23524697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575785464	chr11:23524716-23524717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538102836	chr11:23524721-23524722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554221031	chr11:23524730-23524731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185176670	chr11:23524741-23524742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112753494	chr11:23524793-23524794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35541279	chr11:23524805-23524806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372119099	chr11:23524817-23524818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532787078	chr11:23524824-23524825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553321643	chr11:23524833-23524834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10500959	chr11:23524897-23524898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562577273	chr11:23524913-23524914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546034736	chr11:23524924-23524925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72877149	chr11:23524948-23524949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531514467	chr11:23524956-23524957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542077468	chr11:23524974-23524975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541695142	chr11:23525011-23525012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561881776	chr11:23525015-23525016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10734342	chr11:23525032-23525033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs547119968	chr11:23525034-23525035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566832373	chr11:23525066-23525067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532441239	chr11:23525111-23525112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527865364	chr11:23525118-23525119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549017087	chr11:23525159-23525160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374776389	chr11:23525210-23525211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56171407	chr11:23525212-23525213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190055115	chr11:23525215-23525216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111815409	chr11:23525229-23525230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72547744	chr11:23525278-23525279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10734343	chr11:23525279-23525280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs554707345	chr11:23525280-23525281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57283448	chr11:23525311-23525312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181036624	chr11:23525323-23525324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144092852	chr11:23525331-23525332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185453202	chr11:23525349-23525350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545512288	chr11:23525350-23525351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564435961	chr11:23525391-23525392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146472230	chr11:23525421-23525422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576224659	chr11:23525433-23525434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542131575	chr11:23525446-23525447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538459352	chr11:23525467-23525468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117610772	chr11:23525469-23525470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556692798	chr11:23525498-23525499	Enhancers	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
T-cell prolymphocytic leukemia	19278963	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23524400-23526000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:23524800-23526400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:23529200-23529600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:23530200-23531600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:23530600-23531400	Enhancers	NH-A	brain
6	chr11:23531000-23531200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:23534400-23540800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:23538800-23539600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:23539000-23539600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:23539000-23540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:23539600-23540800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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