Variant report

Variant	nsv975828
Chromosome Location	chr11:5192464-5209037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5193260-5193372	K562	blood:	n/a	n/a
2	ARID3A	chr11:5194443-5194536	K562	blood:	n/a	n/a
3	ATF1	chr11:5199045-5199305	K562	blood:	n/a	n/a
4	BHLHE40	chr11:5193299-5193453	K562	blood:	n/a	n/a
5	CCNT2	chr11:5206078-5206231	K562	blood:	n/a	n/a
6	CEBPB	chr11:5199668-5200048	K562	blood:	n/a	n/a
7	CEBPB	chr11:5199688-5200003	A549	lung:	n/a	n/a
8	CEBPB	chr11:5199691-5200054	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:5199688-5200067	K562	blood:	n/a	n/a
10	CEBPB	chr11:5199690-5200049	HepG2	liver:	n/a	n/a
11	CHD2	chr11:5195669-5195693	GM12878	blood:	n/a	n/a
12	E2F4	chr11:5207722-5207994	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr11:5195343-5195706	MCF10A-Er-Src	breast:	n/a	n/a
14	ELF1	chr11:5199501-5199828	K562	blood:	n/a	chr11:5199662-5199675
15	EP300	chr11:5193277-5193345	K562	blood:	n/a	n/a
16	EP300	chr11:5193168-5193440	K562	blood:	n/a	n/a
17	FAM48A	chr11:5205800-5205961	GM12878	blood:	n/a	n/a
18	GATA2	chr11:5193089-5193482	K562	blood:	n/a	chr11:5193396-5193408
19	IRF1	chr11:5195603-5195739	K562	blood:	n/a	n/a
20	IRF3	chr11:5195651-5195661	GM12878	blood:	n/a	n/a
21	JUN	chr11:5194475-5194479	K562	blood:	n/a	n/a
22	MYC	chr11:5199668-5199791	K562	blood:	n/a	n/a
23	MYC	chr11:5193269-5193405	K562	blood:	n/a	n/a
24	NFYB	chr11:5208248-5208523	K562	blood:	n/a	chr11:5208376-5208386
25	NR2F2	chr11:5193109-5193474	K562	blood:	n/a	n/a
26	NR2F2	chr11:5192960-5193507	K562	blood:	n/a	n/a
27	POLR2A	chr11:5192931-5193030	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:5195116-5195176	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:5193131-5193405	K562	blood:	n/a	n/a
30	RCOR1	chr11:5193156-5193450	K562	blood:	n/a	n/a
31	RCOR1	chr11:5199612-5199798	K562	blood:	n/a	n/a
32	RCOR1	chr11:5195428-5195650	K562	blood:	n/a	n/a
33	RFX5	chr11:5208996-5209108	K562	blood:	n/a	n/a
34	SPI1	chr11:5202934-5203057	K562	blood:	n/a	n/a
35	SPI1	chr11:5202912-5203079	GM12891	blood:	n/a	n/a
36	SPI1	chr11:5202591-5203385	GM12878	blood:	n/a	n/a
37	TAL1	chr11:5193068-5193487	K562	blood:	n/a	chr11:5193212-5193221
38	TBL1XR1	chr11:5193247-5193421	K562	blood:	n/a	n/a
39	TEAD4	chr11:5193087-5193521	K562	blood:	n/a	n/a
40	TEAD4	chr11:5193077-5193496	K562	blood:	n/a	n/a
41	UBTF	chr11:5199658-5199779	K562	blood:	n/a	n/a
42	ZC3H11A	chr11:5199786-5199861	K562	blood:	n/a	n/a
43	ZNF143	chr11:5192655-5192677	K562	blood:	n/a	n/a
44	ZNF274	chr11:5192595-5193989	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5208760..5213541-chr11:5217325..5221735,4	K562	blood:
2	chr11:5192167..5196032-chr11:5198178..5201494,6	K562	blood:
3	chr11:5174124..5177497-chr11:5196224..5198159,3	K562	blood:
4	chr11:5191942..5195830-chr11:5198178..5202032,4	K562	blood:
5	chr11:5191942..5195830-chr11:5198178..5202032,4	K562	blood:
6	chr11:5192167..5196032-chr11:5198178..5201494,6	K562	blood:
7	chr11:5188106..5190567-chr11:5193129..5195928,3	K562	blood:
8	chr11:5151076..5153190-chr11:5193820..5196178,2	K562	blood:

No data

Variant related genes	Relation type
OR52Z1	TF binding region
OR51A1P	TF binding region
OR52A1	TF binding region
ENSG00000176748	chromatin interactions
ENSG00000176752	chromatin interactions

Extended variants
information (count: 614 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546692173	chr11:5192483-5192484	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573891785	chr11:5192502-5192503	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386750121	chr11:5192520-5192521	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74816008	chr11:5192521-5192522	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555265097	chr11:5192526-5192527	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576626190	chr11:5192530-5192531	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373622721	chr11:5192535-5192536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs80217518	chr11:5192557-5192558	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115632309	chr11:5192566-5192567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534778473	chr11:5192569-5192570	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545706170	chr11:5192584-5192585	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7479400	chr11:5192596-5192597	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541614850	chr11:5192609-5192610	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538045106	chr11:5192642-5192643	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs180915236	chr11:5192663-5192664	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79026050	chr11:5192675-5192676	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73396899	chr11:5192685-5192686	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533824521	chr11:5192702-5192703	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563893465	chr11:5192728-5192729	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4910539	chr11:5192729-5192730	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546332045	chr11:5192736-5192737	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184739345	chr11:5192743-5192744	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561832948	chr11:5192772-5192773	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529041440	chr11:5192788-5192789	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374925995	chr11:5192807-5192808	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142111368	chr11:5192820-5192821	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189647224	chr11:5192828-5192829	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147365694	chr11:5192830-5192831	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181579829	chr11:5192837-5192838	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368169740	chr11:5192857-5192858	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs75961031	chr11:5192860-5192861	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73398606	chr11:5192873-5192874	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574588883	chr11:5192896-5192897	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140928842	chr11:5192909-5192910	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549673968	chr11:5192961-5192962	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs74051396	chr11:5192963-5192964	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73398609	chr11:5192964-5192965	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371854278	chr11:5192976-5192977	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74234646	chr11:5193035-5193036	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs36046192	chr11:5193072-5193073	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572710366	chr11:5193092-5193093	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187068125	chr11:5193143-5193144	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs191664757	chr11:5193153-5193154	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551197219	chr11:5193180-5193181	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147963327	chr11:5193204-5193205	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145764844	chr11:5193264-5193265	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528976942	chr11:5193281-5193282	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs73398611	chr11:5193282-5193283	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73398612	chr11:5193305-5193306	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10768633	chr11:5193338-5193339	Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5191600-5193200	Enhancers	K562	blood
2	chr11:5193200-5193600	Flanking Active TSS	K562	blood
3	chr11:5193600-5194000	Enhancers	K562	blood
4	chr11:5194000-5199000	Weak transcription	K562	blood
5	chr11:5199000-5200000	Enhancers	K562	blood

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