Variant report

Variant	esv3522160
Chromosome Location	chr11:48532397-48609382
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	CTCF	chr11:48555740-48555890	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:48541822-48541922	GM20000	blood:	n/a	n/a
4	CTCF	chr11:48559950-48559991	LNCaP	prostate:	n/a	n/a
5	CTCF	chr11:48582661-48582724	GM10248	blood:	n/a	n/a
6	CTCF	chr11:48569780-48569930	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:48555785-48555888	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:48541201-48541226	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:48555681-48555969	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:48555456-48555509	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:48592671-48592738	GM13976	blood:	n/a	n/a
12	CTCF	chr11:48555880-48556030	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:48555446-48555538	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:48588680-48588719	LNCaP	prostate:	n/a	n/a
15	FOS	chr11:48560636-48560920	MCF10A-Er-Src	breast:	n/a	chr11:48560713-48560724 chr11:48560802-48560810
16	FOS	chr11:48546291-48546631	MCF10A-Er-Src	breast:	n/a	chr11:48546576-48546584 chr11:48546614-48546626 chr11:48546576-48546583
17	FOS	chr11:48560655-48560969	MCF10A-Er-Src	breast:	n/a	chr11:48560713-48560724 chr11:48560802-48560810
18	FOS	chr11:48591550-48591741	MCF10A-Er-Src	breast:	n/a	chr11:48591633-48591642 chr11:48591632-48591643 chr11:48591634-48591645 chr11:48591633-48591640
19	FOS	chr11:48591482-48591782	MCF10A-Er-Src	breast:	n/a	chr11:48591633-48591642 chr11:48591632-48591643 chr11:48591634-48591645 chr11:48591633-48591640
20	FOS	chr11:48560560-48561029	MCF10A-Er-Src	breast:	n/a	chr11:48560713-48560724 chr11:48560802-48560810
21	FOS	chr11:48558396-48558412	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:48560582-48561077	MCF10A-Er-Src	breast:	n/a	chr11:48560713-48560724 chr11:48560802-48560810
23	FOXA2	chr11:48576502-48576828	A549	lung:	n/a	n/a
24	FOXA2	chr11:48554965-48555317	A549	lung:	n/a	n/a
25	FOXA2	chr11:48568892-48569278	A549	lung:	n/a	n/a
26	JUND	chr11:48591502-48591801	HepG2	liver:	n/a	chr11:48591633-48591642 chr11:48591632-48591643 chr11:48591634-48591645 chr11:48591633-48591640 chr11:48591631-48591642
27	MAFF	chr11:48595050-48595172	HepG2	liver:	n/a	n/a
28	MAFK	chr11:48595018-48595214	HepG2	liver:	n/a	n/a
29	MAFK	chr11:48608635-48608825	IMR90	lung:	n/a	chr11:48608719-48608730
30	MAFK	chr11:48608572-48608830	HepG2	liver:	n/a	chr11:48608719-48608730
31	MYC	chr11:48576765-48576847	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:48544896-48544934	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:48606369-48606520	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:48562712-48562800	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:48592545-48592699	ProgFib	skin:	n/a	n/a
36	POLR2A	chr11:48559061-48559104	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:48559516-48559599	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:48582706-48582811	Gliobla	brain:	n/a	n/a
39	POLR2A	chr11:48543004-48543009	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:48566175-48566301	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr11:48555682-48556083	MCF-7	breast:	n/a	n/a
42	RAD21	chr11:48555619-48555978	MCF-7	breast:	n/a	n/a
43	RFX5	chr11:48583783-48583982	K562	blood:	n/a	n/a
44	SPI1	chr11:48572776-48572957	GM12878	blood:	n/a	n/a
45	SPI1	chr11:48596692-48596959	GM12891	blood:	n/a	n/a
46	SPI1	chr11:48596623-48597101	GM12878	blood:	n/a	n/a
47	SPI1	chr11:48572763-48572982	GM12891	blood:	n/a	n/a
48	SPI1	chr11:48596731-48596843	K562	blood:	n/a	n/a
49	SPI1	chr11:48572740-48572977	GM12878	blood:	n/a	n/a
50	SPI1	chr11:48596692-48596876	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OR4A41P	TF binding region
OR4A40P	TF binding region
OR4A45P	TF binding region
OR4A43P	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11039802	chr11:48544896-48544897	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572642478	chr11:48544906-48544907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182388545	chr11:48544916-48544917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376804382	chr11:48544919-48544920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs367675182	chr11:48544927-48544928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187931850	chr11:48544932-48544933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184146171	chr11:48546339-48546340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188871595	chr11:48546347-48546348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181446255	chr11:48546365-48546366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs186132247	chr11:48546370-48546371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556533078	chr11:48546371-48546372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576241800	chr11:48546417-48546418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10838933	chr11:48546424-48546425	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190899981	chr11:48546425-48546426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535940147	chr11:48546483-48546484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4882000	chr11:48546496-48546497	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564500181	chr11:48546500-48546501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs533125475	chr11:48546510-48546511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552452575	chr11:48546531-48546532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4882104	chr11:48546556-48546557	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140252069	chr11:48546589-48546590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530502163	chr11:48569005-48569006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550324432	chr11:48569012-48569013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78861339	chr11:48569049-48569050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546345154	chr11:48569053-48569054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566329339	chr11:48569060-48569061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78710650	chr11:48569063-48569064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552433930	chr11:48569068-48569069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569085432	chr11:48569092-48569093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537423970	chr11:48569110-48569111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557094223	chr11:48569113-48569114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10838950	chr11:48569134-48569135	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536739198	chr11:48569158-48569159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7125998	chr11:48569162-48569163	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573458604	chr11:48569171-48569172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545298676	chr11:48569172-48569173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373892623	chr11:48569173-48569174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556838456	chr11:48569181-48569182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575861388	chr11:48569182-48569183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575084747	chr11:48569191-48569192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544152564	chr11:48569192-48569193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138642410	chr11:48569214-48569215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529689753	chr11:48569230-48569231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141157889	chr11:48569246-48569247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191860915	chr11:48569252-48569253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184283142	chr11:48569256-48569257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368808343	chr11:48569260-48569261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569100971	chr11:48569289-48569290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537760967	chr11:48569292-48569293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536009407	chr11:48569300-48569301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48569000-48569600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr11:48569200-48569600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:48576800-48577000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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