Variant report

Variant	nsv1044434
Chromosome Location	chr11:4952914-4974017
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	CCNT2	chr11:4964325-4964404	K562	blood:	n/a	n/a
2	CEBPB	chr11:4958009-4958329	HepG2	liver:	n/a	chr11:4958174-4958185
3	CEBPB	chr11:4959000-4959212	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:4958003-4958355	IMR90	lung:	n/a	chr11:4958174-4958185
5	CEBPB	chr11:4958016-4958348	K562	blood:	n/a	chr11:4958174-4958185
6	CEBPB	chr11:4958017-4958334	A549	lung:	n/a	chr11:4958174-4958185
7	CEBPB	chr11:4958099-4958325	H1-hESC	embryonic stem cell:	n/a	chr11:4958174-4958185
8	CTCF	chr11:4959520-4959551	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
10	CTCF	chr11:4953754-4953803	GM20000	blood:	n/a	n/a
11	CTCF	chr11:4958741-4958772	Fibrobl	skin:	n/a	n/a
12	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
13	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
15	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
16	MAFK	chr11:4953256-4953398	HepG2	liver:	n/a	n/a
17	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
18	MYC	chr11:4958714-4958817	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:4961274-4961285	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
25	REST	chr11:4954715-4954780	GM12878	blood:	n/a	n/a
26	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
27	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
28	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr11:4952895-4953020	MCF10A-Er-Src	breast:	n/a	n/a
30	TAL1	chr11:4954023-4954342	K562	blood:	n/a	chr11:4954201-4954219
31	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
OR51A4	TF binding region
OR51A3P	TF binding region
ENSG00000132274	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112906859	chr11:4953420-4953421	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550131381	chr11:4953455-4953456	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs840716	chr11:4953462-4953463	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572509826	chr11:4953487-4953488	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111937988	chr11:4953535-4953536	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367930830	chr11:4953596-4953597	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs61880595	chr11:4953623-4953624	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79726012	chr11:4953641-4953642	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565217626	chr11:4953648-4953649	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112643999	chr11:4953657-4953658	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs36049521	chr11:4953658-4953659	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs118186487	chr11:4953677-4953678	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139730749	chr11:4953683-4953684	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547967194	chr11:4953714-4953715	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144391516	chr11:4953734-4953735	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182469977	chr11:4953737-4953738	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373896713	chr11:4953743-4953744	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73407039	chr11:4953773-4953774	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561011779	chr11:4953788-4953789	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113360892	chr11:4953792-4953793	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529120919	chr11:4953822-4953823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79797168	chr11:4953823-4953824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141433132	chr11:4953854-4953855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386750075	chr11:4953946-4953947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188090219	chr11:4953958-4953959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536795771	chr11:4954089-4954090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192954826	chr11:4954120-4954121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576057065	chr11:4954159-4954160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs840719	chr11:4957293-4957294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544127721	chr11:4957368-4957369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562464069	chr11:4957404-4957405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533022481	chr11:4957415-4957416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544883788	chr11:4957416-4957417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560244643	chr11:4957417-4957418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200739695	chr11:4957500-4957501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201386904	chr11:4957501-4957502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367683932	chr11:4957542-4957543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5007085	chr11:4957550-4957551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372084668	chr11:4957568-4957569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569589590	chr11:4957591-4957592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540086450	chr11:4957593-4957594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200939580	chr11:4957612-4957613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142388564	chr11:4957623-4957624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11034725	chr11:4957638-4957639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533691899	chr11:4957640-4957641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11034726	chr11:4957643-4957644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145962609	chr11:4957645-4957646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537462524	chr11:4957656-4957657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555699086	chr11:4957677-4957678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577517340	chr11:4957702-4957703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4953400-4953800	Flanking Active TSS	K562	blood
2	chr11:4953800-4954200	Enhancers	K562	blood

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