Variant report

Variant	nsv1049277
Chromosome Location	chr11:4948160-4974017
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	chr11:4958017-4958334	A549	lung:	n/a	chr11:4958174-4958185
5	CEBPB	chr11:4958003-4958355	IMR90	lung:	n/a	chr11:4958174-4958185
6	CEBPB	chr11:4958099-4958325	H1-hESC	embryonic stem cell:	n/a	chr11:4958174-4958185
7	CEBPB	chr11:4958016-4958348	K562	blood:	n/a	chr11:4958174-4958185
8	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
9	CTCF	chr11:4959520-4959551	Lung_OC	lung:	n/a	n/a
10	CTCF	chr11:4958741-4958772	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:4951748-4951794	K562	blood:	n/a	n/a
12	CTCF	chr11:4953754-4953803	GM20000	blood:	n/a	n/a
13	CTCF	chr11:4951652-4951852	K562	blood:	n/a	n/a
14	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
15	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:4947871-4948248	MCF10A-Er-Src	breast:	n/a	chr11:4948019-4948030 chr11:4948020-4948027 chr11:4948020-4948029
17	FOS	chr11:4947850-4948211	MCF10A-Er-Src	breast:	n/a	chr11:4948019-4948030 chr11:4948020-4948027 chr11:4948020-4948029
18	FOS	chr11:4947784-4948211	MCF10A-Er-Src	breast:	n/a	chr11:4948019-4948030 chr11:4948020-4948027 chr11:4948020-4948029
19	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr11:4947888-4948207	MCF10A-Er-Src	breast:	n/a	chr11:4948019-4948030 chr11:4948020-4948027 chr11:4948020-4948029
21	KAP1	chr11:4950759-4950999	K562	blood:	n/a	n/a
22	MAFK	chr11:4953256-4953398	HepG2	liver:	n/a	n/a
23	MAFK	chr11:4947890-4948219	IMR90	lung:	n/a	n/a
24	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
25	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
26	MYC	chr11:4958714-4958817	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:4952717-4952725	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:4949712-4949913	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:4961274-4961285	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr11:4951619-4951835	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr11:4954715-4954780	GM12878	blood:	n/a	n/a
37	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
38	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
39	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:4952895-4953020	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:4951158-4951358	MCF10A-Er-Src	breast:	n/a	n/a
42	TAL1	chr11:4954023-4954342	K562	blood:	n/a	chr11:4954201-4954219
43	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4941970..4943945-chr11:4950687..4952588,2	K562	blood:
2	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
3	chr11:4944719..4946269-chr11:4949741..4951942,2	K562	blood:

Variant related genes	Relation type
OR51G1	TF binding region
OR51A3P	TF binding region
OR51A4	TF binding region
ENSG00000132274	chromatin interactions
ENSG00000176879	chromatin interactions

Extended variants
information (count: 437 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12807322	chr11:4948160-4948161	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550239375	chr11:4948165-4948166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572221097	chr11:4948179-4948180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12277863	chr11:4948180-4948181	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192974862	chr11:4948193-4948194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183908095	chr11:4948212-4948213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10219246	chr11:4949714-4949715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs10219247	chr11:4949715-4949716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576855378	chr11:4949727-4949728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541050675	chr11:4949766-4949767	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553058475	chr11:4949810-4949811	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs80010379	chr11:4949845-4949846	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs56221445	chr11:4949847-4949848	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74052625	chr11:4949860-4949861	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549001762	chr11:4949886-4949887	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563956883	chr11:4949897-4949898	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531121133	chr11:4949908-4949909	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374891525	chr11:4949911-4949912	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117155617	chr11:4949955-4949956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181839008	chr11:4949963-4949964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561483404	chr11:4949967-4949968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529190092	chr11:4949995-4949996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550596530	chr11:4950031-4950032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569074479	chr11:4950032-4950033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556686249	chr11:4950067-4950068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539224255	chr11:4950084-4950085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186171900	chr11:4950096-4950097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570629350	chr11:4950156-4950157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369571941	chr11:4950188-4950189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190101871	chr11:4950194-4950195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150231838	chr11:4950205-4950206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181298462	chr11:4950212-4950213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536188072	chr11:4950220-4950221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138798261	chr11:4950285-4950286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575934814	chr11:4950359-4950360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs60765399	chr11:4950431-4950432	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190949710	chr11:4950445-4950446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149367099	chr11:4950467-4950468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144551050	chr11:4950481-4950482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576620368	chr11:4950507-4950508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539900857	chr11:4950535-4950536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184007082	chr11:4950561-4950562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187328370	chr11:4950605-4950606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11034697	chr11:4950612-4950613	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562464490	chr11:4950613-4950614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533024575	chr11:4950620-4950621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551172225	chr11:4950626-4950627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566286346	chr11:4950652-4950653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200922806	chr11:4950682-4950683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201436099	chr11:4950684-4950685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
early-passage human iPS cells	21368824	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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