Variant report

Variant	esv3453953
Chromosome Location	chr11:41816276-41820774
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	E2F4	chr11:41820675-41820809	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:41816629-41816909	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:41816589-41816915	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:41816589-41816916	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr11:41816632-41816825	HepG2	liver:	n/a	chr11:41816755-41816766
6	POLR2A	chr11:41820084-41820089	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:41816783-41816906	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-API5-10	chr11:41819093-41819514	NONHSAT018894

Variant related genes	Relation type
ENSG00000254668	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138975229	chr11:41816636-41816637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545008306	chr11:41816648-41816649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556935940	chr11:41816669-41816670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575972101	chr11:41816675-41816676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149426816	chr11:41816679-41816680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374498559	chr11:41816685-41816686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572612428	chr11:41816713-41816714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561762786	chr11:41816729-41816730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116752089	chr11:41816771-41816772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181667307	chr11:41816791-41816792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs75839107	chr11:41816847-41816848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559499432	chr11:41816905-41816906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567499388	chr11:41816906-41816907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144665950	chr11:41816916-41816917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567324455	chr11:41819109-41819110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189676218	chr11:41819125-41819126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs72470874	chr11:41819134-41819135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs398097498	chr11:41819140-41819141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs12285434	chr11:41819147-41819148	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575341271	chr11:41819185-41819186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542345650	chr11:41819222-41819223	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532315708	chr11:41819325-41819326	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79028250	chr11:41819330-41819331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs114445399	chr11:41819352-41819353	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs565247820	chr11:41819367-41819368	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532619726	chr11:41819379-41819380	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs142291934	chr11:41819399-41819400	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs562930032	chr11:41819409-41819410	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs151242422	chr11:41819477-41819478	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373507798	chr11:41819528-41819529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1385379	chr11:41819536-41819537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568767884	chr11:41819544-41819545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140432887	chr11:41819546-41819547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182688327	chr11:41819551-41819552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188148288	chr11:41819579-41819580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373954743	chr11:41819593-41819594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2862305	chr11:41819646-41819647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554915416	chr11:41819651-41819652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544371943	chr11:41819652-41819653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568484022	chr11:41819683-41819684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538927708	chr11:41819764-41819765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534279284	chr11:41819765-41819766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145905080	chr11:41819776-41819777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57081046	chr11:41819789-41819790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536419138	chr11:41819807-41819808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201815074	chr11:41819825-41819826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4756671	chr11:41819828-41819829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572564192	chr11:41819940-41819941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539847709	chr11:41819960-41819961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191642576	chr11:41819967-41819968	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cancer	20164919	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:41819200-41822000	Enhancers	Fetal Intestine Small	intestine
2	chr11:41820400-41822200	Enhancers	Fetal Intestine Large	intestine

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