Variant report

Variant	nsv1048412
Chromosome Location	chr11:107331688-107351954
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	CBX3	chr11:107339406-107339761	K562	blood:	n/a	n/a
2	CEBPB	chr11:107339344-107339654	K562	blood:	n/a	n/a
3	CEBPB	chr11:107346853-107347169	A549	lung:	n/a	chr11:107346997-107347010 chr11:107346997-107347008 chr11:107346999-107347008 chr11:107346997-107347010 chr11:107346999-107347010
4	CEBPB	chr11:107346856-107347139	IMR90	lung:	n/a	chr11:107346997-107347010 chr11:107346997-107347008 chr11:107346999-107347008 chr11:107346997-107347010 chr11:107346999-107347010
5	CEBPB	chr11:107346853-107347156	K562	blood:	n/a	chr11:107346997-107347010 chr11:107346997-107347008 chr11:107346999-107347008 chr11:107346997-107347010 chr11:107346999-107347010
6	CEBPB	chr11:107346852-107347105	HepG2	liver:	n/a	chr11:107346997-107347010 chr11:107346997-107347008 chr11:107346999-107347008 chr11:107346997-107347010 chr11:107346999-107347010
7	CTCF	chr11:107339480-107339630	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr11:107339579-107339725	K562	blood:	n/a	n/a
9	CTCF	chr11:107339600-107339750	HMEC	breast:	n/a	n/a
10	CTCF	chr11:107339360-107339510	HAc	cerebellar:	n/a	n/a
11	FOS	chr11:107341128-107341298	MCF10A-Er-Src	breast:	n/a	chr11:107341235-107341245 chr11:107341236-107341245 chr11:107341229-107341241 chr11:107341235-107341245 chr11:107341235-107341245 chr11:107341235-107341245
12	FOXA1	chr11:107341032-107341355	HepG2	liver:	n/a	n/a
13	GATA3	chr11:107338473-107338855	T-47D	breast:	n/a	chr11:107338652-107338662
14	GATA3	chr11:107338620-107338928	T-47D	breast:	n/a	chr11:107338652-107338662
15	IRF1	chr11:107349095-107349244	K562	blood:	n/a	chr11:107349160-107349172 chr11:107349161-107349172 chr11:107349223-107349230
16	MAFF	chr11:107339495-107339515	K562	blood:	n/a	n/a
17	MAFF	chr11:107336989-107337130	HepG2	liver:	n/a	n/a
18	MAFF	chr11:107342738-107343018	HepG2	liver:	n/a	n/a
19	MAFK	chr11:107342719-107342950	IMR90	lung:	n/a	n/a
20	MAFK	chr11:107342742-107342920	HepG2	liver:	n/a	n/a
21	MAFK	chr11:107342847-107342881	K562	blood:	n/a	n/a
22	MAFK	chr11:107342715-107343027	HepG2	liver:	n/a	n/a
23	MAX	chr11:107339481-107339805	K562	blood:	n/a	chr11:107339681-107339691
24	MAX	chr11:107339507-107339801	NB4	blood:	n/a	chr11:107339681-107339691
25	MYC	chr11:107339513-107339710	MCF10A-Er-Src	breast:	n/a	chr11:107339681-107339691
26	POLR2A	chr11:107337259-107337484	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:107339222-107339432	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:107337291-107337505	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:107348520-107348797	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr11:107339557-107339696	SK-N-SH_RA	brain:	n/a	n/a
31	STAT3	chr11:107339510-107339710	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107342962..107345043-chr11:107346726..107348566,2	K562	blood:
2	chr11:107342962..107345043-chr11:107346726..107348566,2	K562	blood:

Variant related genes	Relation type
CWF19L2	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193009717	chr11:107336652-107336653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529585486	chr11:107336655-107336656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550814432	chr11:107336681-107336682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568931247	chr11:107336706-107336707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34292403	chr11:107336709-107336710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539413529	chr11:107336753-107336754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558116810	chr11:107336754-107336755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10400258	chr11:107336784-107336785	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185778965	chr11:107336785-107336786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186541741	chr11:107336794-107336795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574642599	chr11:107336820-107336821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113882319	chr11:107336843-107336844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542150462	chr11:107336873-107336874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557267414	chr11:107336917-107336918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527801	chr11:107336918-107336919	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs10400259	chr11:107336940-107336941	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191222761	chr11:107336980-107336981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs633543	chr11:107337017-107337018	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs540314197	chr11:107337031-107337032	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533311758	chr11:107337073-107337074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199767093	chr11:107337107-107337108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562154915	chr11:107337125-107337126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372241289	chr11:107337149-107337150	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550877680	chr11:107337186-107337187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183732516	chr11:107337220-107337221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546907272	chr11:107337246-107337247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566705692	chr11:107337247-107337248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144948984	chr11:107337261-107337262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551529186	chr11:107337283-107337284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536170554	chr11:107337320-107337321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566846963	chr11:107337332-107337333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535623265	chr11:107337342-107337343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572400269	chr11:107337364-107337365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs375138936	chr11:107344201-107344202	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568775843	chr11:107344227-107344228	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151038844	chr11:107344242-107344243	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140972020	chr11:107344247-107344248	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572650588	chr11:107344354-107344355	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35220178	chr11:107344395-107344396	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536184823	chr11:107344458-107344459	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs733811	chr11:107344568-107344569	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185346253	chr11:107344592-107344593	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573867009	chr11:107344601-107344602	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544592335	chr11:107344607-107344608	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563230670	chr11:107344642-107344643	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569461362	chr11:107344667-107344668	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545430363	chr11:107344715-107344716	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs624584	chr11:107344724-107344725	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs527797115	chr11:107344729-107344730	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369684066	chr11:107344758-107344759	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107336600-107337400	Active TSS	HepG2	liver
2	chr11:107344200-107345000	Enhancers	Fetal Kidney	kidney
3	chr11:107344200-107345200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:107344600-107345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:107349000-107349600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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