Variant report

Variant	nsv982931
Chromosome Location	chr11:25642821-25663100
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	chr11:25654767-25655104	IMR90	lung:	n/a	chr11:25654930-25654941
2	CEBPB	chr11:25654764-25655080	HepG2	liver:	n/a	chr11:25654930-25654941
3	CEBPB	chr11:25654846-25655049	MCF-7	breast:	n/a	chr11:25654930-25654941
4	CEBPB	chr11:25654797-25655096	A549	lung:	n/a	chr11:25654930-25654941
5	CEBPB	chr11:25654759-25654990	H1-hESC	embryonic stem cell:	n/a	chr11:25654930-25654941
6	CEBPB	chr11:25654801-25655170	MCF-7	breast:	n/a	chr11:25654930-25654941
7	CEBPB	chr11:25654755-25655103	Hela-S3	cervix:	n/a	chr11:25654930-25654941
8	CTCF	chr11:25650075-25650115	GM10248	blood:	n/a	n/a
9	FOXA1	chr11:25646723-25647073	T-47D	breast:	n/a	chr11:25646955-25646970
10	FOXA1	chr11:25646701-25647094	T-47D	breast:	n/a	chr11:25646955-25646970
11	JUN	chr11:25662228-25662238	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr11:25654885-25655167	HepG2	liver:	n/a	chr11:25655028-25655037
13	MAZ	chr11:25648114-25648311	HepG2	liver:	n/a	n/a
14	NFYB	chr11:25648842-25649246	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:25653601-25653676	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:25662747-25662859	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:25647134-25647260	MCF10A-Er-Src	breast:	n/a	n/a
18	YY1	chr11:25649593-25649957	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LUZP2-2	chr11:25652266-25652587	NONHSAT018449

Variant related genes	Relation type
ENSG00000255454	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11493207	chr11:25648163-25648164	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536222214	chr11:25648181-25648182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554236910	chr11:25648196-25648197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149013324	chr11:25648237-25648238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529434372	chr11:25648248-25648249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541173235	chr11:25648255-25648256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543070791	chr11:25648302-25648303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569980518	chr11:25648886-25648887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs536692213	chr11:25648944-25648945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73433321	chr11:25648950-25648951	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538168267	chr11:25648965-25648966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564426651	chr11:25649012-25649013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs78027823	chr11:25649101-25649102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559250653	chr11:25649143-25649144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556306769	chr11:25649155-25649156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73433322	chr11:25649181-25649182	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541713517	chr11:25649200-25649201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563621579	chr11:25649203-25649204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs530917847	chr11:25649212-25649213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs78835463	chr11:25649214-25649215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564549535	chr11:25649238-25649239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143812124	chr11:25649245-25649246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377257175	chr11:25649419-25649420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146655832	chr11:25649495-25649496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148322808	chr11:25649506-25649507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553036948	chr11:25649507-25649508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77462891	chr11:25649516-25649517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111672886	chr11:25649520-25649521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150562830	chr11:25649521-25649522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575638703	chr11:25649525-25649526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546139465	chr11:25649548-25649549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535643747	chr11:25649581-25649582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113726057	chr11:25649611-25649612	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs115227689	chr11:25649622-25649623	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186706850	chr11:25649637-25649638	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562254543	chr11:25649672-25649673	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529452826	chr11:25649675-25649676	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535106378	chr11:25649687-25649688	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550792222	chr11:25649723-25649724	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569132963	chr11:25649733-25649734	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533414291	chr11:25649734-25649735	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs551669329	chr11:25649737-25649738	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12795975	chr11:25649751-25649752	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191093786	chr11:25649754-25649755	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534662335	chr11:25649760-25649761	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552784299	chr11:25649781-25649782	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12362560	chr11:25649782-25649783	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535623436	chr11:25649792-25649793	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs182941609	chr11:25649793-25649794	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575524485	chr11:25649801-25649802	Inactive region	TF binding region	1 gene(s)	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	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25649400-25649800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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