Variant report

Variant	esv1794118
Chromosome Location	chr7:56680268-56704950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56679724-56680440	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:56684639-56685056	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:56680850-56680963	A549	lung:	n/a	n/a
4	CEBPB	chr7:56681418-56681611	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:56684598-56685060	A549	lung:	n/a	n/a
6	CEBPB	chr7:56682969-56683345	A549	lung:	n/a	n/a
7	CEBPB	chr7:56679784-56680507	A549	lung:	n/a	n/a
8	CEBPB	chr7:56684756-56684982	IMR90	lung:	n/a	n/a
9	CEBPB	chr7:56685616-56685732	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:56679987-56680341	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:56681433-56681665	A549	lung:	n/a	n/a
12	CTCF	chr7:56702121-56702251	GM20000	blood:	n/a	n/a
13	CTCF	chr7:56695688-56695732	GM20000	blood:	n/a	n/a
14	CTCF	chr7:56694015-56694061	GM10248	blood:	n/a	n/a
15	E2F4	chr7:56687781-56687973	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:56686027-56686160	MCF10A-Er-Src	breast:	n/a	n/a
17	IRF1	chr7:56690350-56690384	K562	blood:	n/a	n/a
18	MAFF	chr7:56687694-56687879	HepG2	liver:	n/a	n/a
19	MAFK	chr7:56687672-56687871	HepG2	liver:	n/a	n/a
20	MAFK	chr7:56687708-56687795	HepG2	liver:	n/a	n/a
21	MAFK	chr7:56700265-56700309	IMR90	lung:	n/a	n/a
22	POLR2A	chr7:56696054-56696275	K562	blood:	n/a	n/a
23	POLR2A	chr7:56698386-56698460	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:56688340-56688383	GM12878	blood:	n/a	n/a
25	SETDB1	chr7:56690953-56691323	U2OS	brain:	n/a	n/a
26	USF2	chr7:56683328-56683458	HepG2	liver:	n/a	n/a
27	WRNIP1	chr7:56696636-56696654	GM12878	blood:	n/a	n/a
28	ZNF143	chr7:56690982-56691267	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP4-725G10.1.1-5	chr7:56683916-56683960	XLOC_006459
2	lnc-RP4-725G10.1.1-5	chr7:56684598-56684937	XLOC_006459
3	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
4	lnc-RP4-725G10.1.1-5	chr7:56682719-56682895	NONHSAT120776
5	lnc-SUMF2-3	chr7:56680598-56681457	XLOC_006111
6	lnc-RP4-725G10.1.1-5	chr7:56685496-56685650	XLOC_006459
7	lnc-RP4-725G10.1.1-5	chr7:56683913-56683943	NONHSAT120776
8	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	NONHSAT120776
9	lnc-SUMF2-3	chr7:56681640-56681804	XLOC_006111
10	lnc-RP4-725G10.1.1-5	chr7:56684598-56685484	XLOC_006459
11	lnc-SUMF2-4	chr7:56682819-56683113	XLOC_006110
12	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
13	lnc-ZNF479-7	chr7:56699432-56699828	NONHSAT120778
14	lnc-RP4-725G10.1.1-5	chr7:56682442-56682895	XLOC_006459
15	lnc-SUMF2-4	chr7:56680291-56680415	XLOC_006110
16	lnc-RP4-725G10.1.1-5	chr7:56683000-56683108	XLOC_006459
17	lnc-ZNF479-7	chr7:56700124-56700420	NONHSAT120778

No data

Variant related genes	Relation type
TRIM60P16	TF binding region
MYO3B	miRNA target sites
TCP11L2	miRNA target sites
C5orf36	miRNA target sites

Extended variants
information (count: 359 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:359 , 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	rs537871231	chr7:56680301-56680302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181123906	chr7:56680304-56680305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs147228817	chr7:56680307-56680308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs9642614	chr7:56680317-56680318	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574629305	chr7:56680328-56680329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs9642416	chr7:56680362-56680363	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9642615	chr7:56680369-56680370	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546430625	chr7:56680383-56680384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564639700	chr7:56680399-56680400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576707446	chr7:56680400-56680401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9642417	chr7:56680607-56680608	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559391997	chr7:56680623-56680624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568157082	chr7:56680624-56680625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs6970885	chr7:56680655-56680656	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9942610	chr7:56680664-56680665	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79686091	chr7:56680704-56680705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs79660360	chr7:56680707-56680708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs182566468	chr7:56680738-56680739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs186196964	chr7:56680739-56680740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs544165954	chr7:56680741-56680742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561626036	chr7:56680766-56680767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546044252	chr7:56680834-56680835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs9642617	chr7:56680862-56680863	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541096455	chr7:56680908-56680909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs559201901	chr7:56680948-56680949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139246397	chr7:56680996-56680997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs551267566	chr7:56681002-56681003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs189836225	chr7:56681069-56681070	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs112121224	chr7:56681087-56681088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548876278	chr7:56681104-56681105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568067322	chr7:56681106-56681107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs150017578	chr7:56681125-56681126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs145246664	chr7:56681129-56681130	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs370936859	chr7:56681184-56681185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs551211170	chr7:56681192-56681193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs571172388	chr7:56681223-56681224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs11982992	chr7:56681228-56681229	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13310169	chr7:56681252-56681253	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs558058855	chr7:56681271-56681272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570238269	chr7:56681304-56681305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537691939	chr7:56681312-56681313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs17153055	chr7:56681316-56681317	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573643741	chr7:56681344-56681345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs3113661	chr7:56681352-56681353	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112457809	chr7:56681400-56681401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs577664853	chr7:56681410-56681411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545131718	chr7:56681425-56681426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs369553614	chr7:56681644-56681645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs568200303	chr7:56681665-56681666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs536862989	chr7:56681692-56681693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56684800-56685600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:56684800-56685800	Active TSS	Fetal Heart	heart
3	chr7:56691000-56692800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:56702400-56708600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr7:56703400-56705200	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr7:56703800-56706800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:56704000-56706800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:56704200-56705600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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