Variant report

Variant	esv1832223
Chromosome Location	chr11:5760056-5773545
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	CEBPB	chr11:5764267-5764515	IMR90	lung:	n/a	n/a
2	CTCF	chr11:5762540-5762690	Caco-2	colon:	n/a	n/a
3	E2F4	chr11:5771736-5772054	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr11:5770156-5770325	GM12878	blood:	n/a	chr11:5770256-5770269
5	EBF1	chr11:5770104-5770416	GM12878	blood:	n/a	chr11:5770256-5770269
6	GTF2F1	chr11:5767177-5767182	H1-hESC	embryonic stem cell:	n/a	n/a
7	IRF3	chr11:5767144-5767198	GM12878	blood:	n/a	n/a
8	JUN	chr11:5771503-5771519	HepG2	liver:	n/a	n/a
9	KAP1	chr11:5763024-5763281	K562	blood:	n/a	n/a
10	MAFF	chr11:5771103-5771425	HepG2	liver:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
11	MAFF	chr11:5771106-5771329	K562	blood:	n/a	chr11:5771265-5771279 chr11:5771266-5771284
12	MAFF	chr11:5770394-5770519	HepG2	liver:	n/a	n/a
13	MAFK	chr11:5771094-5771423	HepG2	liver:	n/a	chr11:5771262-5771282
14	MAFK	chr11:5770417-5770572	HepG2	liver:	n/a	chr11:5770492-5770508 chr11:5770495-5770509 chr11:5770496-5770507
15	MAFK	chr11:5771087-5771428	HepG2	liver:	n/a	chr11:5771262-5771282
16	MAFK	chr11:5771101-5771399	IMR90	lung:	n/a	chr11:5771262-5771282
17	MAFK	chr11:5771254-5771311	K562	blood:	n/a	chr11:5771262-5771282
18	POLR2A	chr11:5772463-5772472	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:5765315-5765507	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:5766325-5766491	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5763909-5764016	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5764453-5764653	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5773275-5773378	ProgFib	skin:	n/a	n/a
24	POLR2A	chr11:5767583-5767625	MCF10A-Er-Src	breast:	n/a	n/a
25	RFX5	chr11:5769298-5769412	K562	blood:	n/a	n/a
26	STAT3	chr11:5761451-5761587	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr11:5762335-5762484	MCF10A-Er-Src	breast:	n/a	n/a
28	USF2	chr11:5763146-5763165	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5757074..5759023-chr11:5763300..5765136,2	K562	blood:
2	11:5076469-5081549..11:5767550-5775401	K562	blood:

Variant related genes	Relation type
OR52N4	TF binding region
ENSG00000181023	chromatin interactions
ENSG00000176787	chromatin interactions

Extended variants
information (count: 354 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369619083	chr11:5760088-5760089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117295829	chr11:5760143-5760144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541172185	chr11:5760195-5760196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117768268	chr11:5760201-5760202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181324442	chr11:5760222-5760223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12787457	chr11:5760241-5760242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111269875	chr11:5760297-5760298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185201977	chr11:5760312-5760313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564444699	chr11:5760342-5760343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147285238	chr11:5760381-5760382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10605800	chr11:5760391-5760392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34408539	chr11:5760623-5760624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533379010	chr11:5760758-5760759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548653639	chr11:5760762-5760763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367694438	chr11:5760792-5760793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386372997	chr11:5760810-5760811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71053302	chr11:5760811-5760812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201244975	chr11:5760812-5760813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77517471	chr11:5760813-5760814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563619153	chr11:5760817-5760818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114525057	chr11:5760896-5760897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144867812	chr11:5760933-5760934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374718368	chr11:5760937-5760938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540529044	chr11:5760972-5760973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189958527	chr11:5761005-5761006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147903192	chr11:5761011-5761012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183984023	chr11:5761013-5761014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558480239	chr11:5761096-5761097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573322306	chr11:5761135-5761136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540627779	chr11:5761151-5761152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115930882	chr11:5761152-5761153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187374089	chr11:5761159-5761160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12291965	chr11:5761164-5761165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12800197	chr11:5761219-5761220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532949495	chr11:5761304-5761305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72878687	chr11:5761322-5761323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12273853	chr11:5761326-5761327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527541164	chr11:5761334-5761335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548977690	chr11:5761400-5761401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11038899	chr11:5761466-5761467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140012648	chr11:5761493-5761494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551084440	chr11:5761576-5761577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567608652	chr11:5761580-5761581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145329794	chr11:5761612-5761613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569513993	chr11:5761619-5761620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540034715	chr11:5761620-5761621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558337356	chr11:5761676-5761677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191819751	chr11:5761723-5761724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534195660	chr11:5761788-5761789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76095649	chr11:5761797-5761798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5747400-5762400	Weak transcription	Left Ventricle	heart
2	chr11:5756800-5760400	Weak transcription	Ovary	ovary
3	chr11:5757600-5760200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:5757800-5760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:5761800-5762000	ZNF genes & repeats	Gastric	stomach
6	chr11:5762600-5762800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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