Variant report

Variant	nsv1042318
Chromosome Location	chr11:48594256-48649762
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	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
2	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:48628746-48628791	HepG2	liver:	n/a	chr11:48628766-48628779 chr11:48628767-48628778 chr11:48628766-48628777
4	CEBPB	chr11:48641711-48641734	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:48641584-48641785	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:48641582-48641875	IMR90	lung:	n/a	n/a
7	CTCF	chr11:48646663-48646669	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:48634707-48634740	GM10248	blood:	n/a	n/a
9	CTCF	chr11:48643117-48643153	GM10266	blood:	n/a	n/a
10	CTCF	chr11:48634700-48634706	GM10248	blood:	n/a	n/a
11	CTCF	chr11:48646670-48646724	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:48631997-48632093	GM13976	blood:	n/a	n/a
13	E2F4	chr11:48614004-48614186	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr11:48644227-48644259	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:48643904-48644123	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:48642637-48642837	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:48642625-48642878	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:48643915-48644046	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:48643502-48644133	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:48643510-48643698	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr11:48638837-48639060	HepG2	liver:	n/a	n/a
22	MAFF	chr11:48595050-48595172	HepG2	liver:	n/a	n/a
23	MAFK	chr11:48595018-48595214	HepG2	liver:	n/a	n/a
24	MAFK	chr11:48608635-48608825	IMR90	lung:	n/a	chr11:48608719-48608730
25	MAFK	chr11:48608572-48608830	HepG2	liver:	n/a	chr11:48608719-48608730
26	MAZ	chr11:48611732-48611913	HepG2	liver:	n/a	n/a
27	MYC	chr11:48644028-48644055	MCF-7	breast:	n/a	n/a
28	MYC	chr11:48642773-48642783	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr11:48632098-48632224	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:48637863-48637882	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:48642643-48642655	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:48647791-48647925	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:48606369-48606520	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:48648995-48649150	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:48638958-48639076	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:48643567-48643711	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:48616256-48616323	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:48643939-48643980	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:48648975-48648985	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:48625460-48625504	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:48631870-48631983	Gliobla	brain:	n/a	n/a
42	POLR2A	chr11:48624899-48624920	A549	lung:	n/a	n/a
43	SPI1	chr11:48596623-48597101	GM12878	blood:	n/a	n/a
44	SPI1	chr11:48596692-48596876	GM12878	blood:	n/a	n/a
45	SPI1	chr11:48596694-48596853	K562	blood:	n/a	n/a
46	SPI1	chr11:48596720-48596888	GM12878	blood:	n/a	n/a
47	SPI1	chr11:48596731-48596843	K562	blood:	n/a	n/a
48	SPI1	chr11:48596692-48596959	GM12891	blood:	n/a	n/a
49	SPI1	chr11:48596697-48596885	GM12891	blood:	n/a	n/a
50	STAT3	chr11:48642635-48642826	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OR4A41P	TF binding region
OR4A44P	TF binding region
OR4A45P	TF binding region
OR4A42P	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34967308	chr11:48596644-48596645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189984961	chr11:48596661-48596662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530551341	chr11:48596689-48596690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367619160	chr11:48596751-48596752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182166003	chr11:48596756-48596757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536522837	chr11:48596766-48596767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546919863	chr11:48596768-48596769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71479920	chr11:48596780-48596781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566811967	chr11:48596793-48596794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs535014196	chr11:48596796-48596797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557895314	chr11:48596817-48596818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10742856	chr11:48596818-48596819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10838969	chr11:48596837-48596838	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557101515	chr11:48596860-48596861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187139338	chr11:48596900-48596901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs554946231	chr11:48596901-48596902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542870536	chr11:48596917-48596918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559611008	chr11:48596927-48596928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372607365	chr11:48596928-48596929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs143060771	chr11:48596929-48596930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138264552	chr11:48596930-48596931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs36134860	chr11:48596932-48596933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs10742857	chr11:48596955-48596956	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs36176069	chr11:48596959-48596960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10742858	chr11:48596962-48596963	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11825197	chr11:48596986-48596987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546862517	chr11:48596997-48596998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566750440	chr11:48597037-48597038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112286102	chr11:48597040-48597041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs578122563	chr11:48597075-48597076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532338738	chr11:48597082-48597083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551717410	chr11:48597084-48597085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs183474044	chr11:48597098-48597099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs74403804	chr11:48606371-48606372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540526809	chr11:48606418-48606419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560054538	chr11:48606436-48606437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116329055	chr11:48606495-48606496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545026625	chr11:48606510-48606511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565022272	chr11:48606520-48606521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145951279	chr11:48608583-48608584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549000610	chr11:48608659-48608660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548275363	chr11:48608661-48608662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566006386	chr11:48608670-48608671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144079928	chr11:48608685-48608686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs186636218	chr11:48608696-48608697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564654084	chr11:48608715-48608716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190298956	chr11:48608717-48608718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368474265	chr11:48608744-48608745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541653669	chr11:48608762-48608763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs6485889	chr11:48608785-48608786	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48632800-48633200	Active TSS	Fetal Heart	heart

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