Variant report

Variant	esv3313018
Chromosome Location	chr16:76661362-76671186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:307)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:76668888-76668938	K562	blood:	n/a	n/a
2	ATF1	chr16:76668805-76669470	K562	blood:	n/a	n/a
3	ATF3	chr16:76668818-76669064	K562	blood:	n/a	n/a
4	BHLHE40	chr16:76668642-76669184	K562	blood:	n/a	n/a
5	CBX3	chr16:76668672-76669213	K562	blood:	n/a	n/a
6	CBX3	chr16:76668556-76669332	K562	blood:	n/a	n/a
7	CCNT2	chr16:76668739-76669178	K562	blood:	n/a	n/a
8	CEBPB	chr16:76668991-76669576	K562	blood:	n/a	chr16:76669437-76669448
9	CEBPB	chr16:76669283-76669515	K562	blood:	n/a	chr16:76669437-76669448
10	CEBPB	chr16:76669262-76669518	HepG2	liver:	n/a	chr16:76669437-76669448
11	CEBPB	chr16:76666721-76666977	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:76668375-76668595	HepG2	liver:	n/a	chr16:76668457-76668468
13	CEBPB	chr16:76668970-76669641	K562	blood:	n/a	chr16:76669437-76669448
14	CHD2	chr16:76668845-76668959	K562	blood:	n/a	n/a
15	CTCF	chr16:76669060-76669210	K562	blood:	n/a	n/a
16	CTCF	chr16:76668893-76669162	K562	blood:	n/a	n/a
17	CTCF	chr16:76668523-76669383	K562	blood:	n/a	n/a
18	CTCF	chr16:76668820-76669204	K562	blood:	n/a	n/a
19	CTCF	chr16:76668821-76669163	K562	blood:	n/a	n/a
20	CTCF	chr16:76668914-76669159	K562	blood:	n/a	n/a
21	CTCF	chr16:76668960-76669110	K562	blood:	n/a	n/a
22	CTCFL	chr16:76668795-76668941	K562	blood:	n/a	n/a
23	E2F4	chr16:76668682-76669210	K562	blood:	n/a	chr16:76668876-76668885 chr16:76668859-76668874
24	E2F6	chr16:76668556-76669439	K562	blood:	n/a	chr16:76668876-76668885 chr16:76668859-76668874
25	E2F6	chr16:76668663-76669219	K562	blood:	n/a	chr16:76668876-76668885 chr16:76668859-76668874
26	E2F6	chr16:76668658-76669088	K562	blood:	n/a	chr16:76668876-76668885 chr16:76668859-76668874
27	EGR1	chr16:76668898-76669134	K562	blood:	n/a	chr16:76669066-76669076
28	ELF1	chr16:76668688-76669193	K562	blood:	n/a	n/a
29	ELF1	chr16:76668770-76669140	K562	blood:	n/a	n/a
30	ELK1	chr16:76668700-76668979	K562	blood:	n/a	n/a
31	EP300	chr16:76668812-76669069	K562	blood:	n/a	n/a
32	ETS1	chr16:76668774-76669198	K562	blood:	n/a	n/a
33	GABPA	chr16:76668819-76669216	K562	blood:	n/a	chr16:76668875-76668889 chr16:76668877-76668886 chr16:76668872-76668886 chr16:76668875-76668886
34	GTF2F1	chr16:76668669-76669167	K562	blood:	n/a	n/a
35	HCFC1	chr16:76668753-76669467	K562	blood:	n/a	n/a
36	HEY1	chr16:76668780-76669208	K562	blood:	n/a	n/a
37	HEY1	chr16:76668844-76669174	K562	blood:	n/a	n/a
38	HMGN3	chr16:76668734-76669194	K562	blood:	n/a	n/a
39	IRF1	chr16:76668772-76669487	K562	blood:	n/a	n/a
40	IRF1	chr16:76668806-76669344	K562	blood:	n/a	n/a
41	JUN	chr16:76665233-76665385	K562	blood:	n/a	n/a
42	JUND	chr16:76668672-76669444	K562	blood:	n/a	n/a
43	MAFK	chr16:76667005-76667091	HepG2	liver:	n/a	chr16:76667025-76667040
44	MAFK	chr16:76668700-76668991	K562	blood:	n/a	n/a
45	MAX	chr16:76668656-76669194	K562	blood:	n/a	n/a
46	MAX	chr16:76668680-76669209	K562	blood:	n/a	n/a
47	MAX	chr16:76668632-76669548	K562	blood:	n/a	n/a
48	MAZ	chr16:76668699-76669246	K562	blood:	n/a	n/a
49	MXI1	chr16:76668778-76669118	K562	blood:	n/a	n/a
50	MYC	chr16:76668817-76669113	K562	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76670197-76670247	HIPEpiC	eye:	n/a
2	chr16:76670197-76670247	Hela-S3	cervix:	n/a
3	chr16:76670197-76670247	HIPEpiC	eye:	n/a
4	chr16:76670197-76670247	Hela-S3	cervix:	n/a
5	chr16:76668836-76668886	HEK293	kidney:	embryo
6	chr16:76668836-76668886	LNCaP	prostate:	n/a
7	chr16:76668836-76668886	HMEC	breast:	n/a
8	chr16:76668836-76668886	AG04450	lung:	fetal
9	chr16:76666860-76666910	SKMC	muscle:	n/a
10	chr16:76665665-76665715	GM12891	blood:	n/a
11	chr16:76670197-76670247	ECC-1	luminal epithelium:	n/a
12	chr16:76668836-76668886	HCPEpiC	choroid plexus:	n/a
13	chr16:76665665-76665715	RPTEC	kidney:	n/a
14	chr16:76670197-76670247	HEK293	kidney:	embryo
15	chr16:76670197-76670247	GM12878	blood:	n/a
16	chr16:76666860-76666910	T-47D	breast:	n/a
17	chr16:76666860-76666910	Caco-2	colon:	n/a
18	chr16:76670197-76670247	HNPCEpiC	eye:	n/a
19	chr16:76668836-76668886	U87	brain:	n/a
20	chr16:76666860-76666910	GM19239	blood:	n/a
21	chr16:76668836-76668886	SK-N-SH_RA	brain:	n/a
22	chr16:76665665-76665715	AG04449	skin:	fetal
23	chr16:76666860-76666910	HEK293	kidney:	embryo
24	chr16:76669151-76669201	AG09309	skin:	n/a
25	chr16:76666860-76666910	GM06990	blood:	n/a
26	chr16:76666860-76666910	HMEC	breast:	n/a
27	chr16:76669151-76669201	NHDF-neo	bronchial:	n/a
28	chr16:76668836-76668886	IMR90	lung:	fetal
29	chr16:76668836-76668886	ovcar-3	ovarian:	n/a
30	chr16:76666860-76666910	ECC-1	luminal epithelium:	n/a
31	chr16:76670197-76670247	ProgFib	skin:	n/a
32	chr16:76670197-76670247	PANC-1	pancreas:	n/a
33	chr16:76669151-76669201	GM19239	blood:	n/a
34	chr16:76668836-76668886	MCF10A-Er-Src	breast:	n/a
35	chr16:76669151-76669201	AG10803	skin:	n/a
36	chr16:76668836-76668886	SAEC	small airway:	n/a
37	chr16:76668836-76668886	RPTEC	kidney:	n/a
38	chr16:76668836-76668886	NHDF-neo	bronchial:	n/a
39	chr16:76665665-76665715	SKMC	muscle:	n/a
40	chr16:76666860-76666910	HepG2	liver:	n/a
41	chr16:76665665-76665715	K562	blood:	n/a
42	chr16:76665665-76665715	HEEpiC	esophagus:	n/a
43	chr16:76669151-76669201	Caco-2	colon:	n/a
44	chr16:76668836-76668886	AG09319	gingival:	n/a
45	chr16:76670197-76670247	SK-N-SH_RA	brain:	n/a
46	chr16:76669151-76669201	HUVEC	blood vessel:	n/a
47	chr16:76669151-76669201	NH-A	brain:	n/a
48	chr16:76665665-76665715	PANC-1	pancreas:	n/a
49	chr16:76669151-76669201	SK-N-MC	brain:	n/a
50	chr16:76668836-76668886	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76665227..76667688-chr16:76668445..76671290,2	K562	blood:
2	chr16:76669652..76671358-chr16:76701917..76703611,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-1	chr16:76669394-76669520	ENSG00000250514
2	lnc-RP11-58C22.1.1-1	chr16:76668895-76669046	ENSG00000250514

No data

Variant related genes	Relation type
ENSG00000250514	TF binding region
ENSG00000250514	CpG island
ENSG00000250514	chromatin interactions
DDX3Y	miRNA target sites
CDV3	miRNA target sites

Extended variants
information (count: 175 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192058551	chr16:76664535-76664536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369195445	chr16:76664545-76664546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147450613	chr16:76665233-76665234	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564871533	chr16:76665257-76665258	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574294101	chr16:76665267-76665268	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543316172	chr16:76665306-76665307	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192713127	chr16:76665311-76665312	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376620279	chr16:76665316-76665317	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185070144	chr16:76665319-76665320	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571273495	chr16:76665330-76665331	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148171921	chr16:76665386-76665387	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527276025	chr16:76665414-76665415	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534062521	chr16:76665453-76665454	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565065297	chr16:76665544-76665545	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187940271	chr16:76665599-76665600	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530907510	chr16:76665614-76665615	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141973161	chr16:76665618-76665619	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372711180	chr16:76665636-76665637	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138161437	chr16:76665646-76665647	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201040732	chr16:76665647-76665648	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560953863	chr16:76665692-76665693	Inactive region	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529993475	chr16:76665730-76665731	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549278465	chr16:76665810-76665811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553953904	chr16:76665847-76665848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192289381	chr16:76665934-76665935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528325018	chr16:76665945-76665946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80354992	chr16:76665954-76665955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs118144438	chr16:76666096-76666097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184444608	chr16:76666116-76666117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537134735	chr16:76666217-76666218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557054074	chr16:76666221-76666222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567257914	chr16:76666223-76666224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561549968	chr16:76666245-76666246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536455161	chr16:76666255-76666256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535844738	chr16:76666265-76666266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553663664	chr16:76666273-76666274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371351043	chr16:76666356-76666357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150691544	chr16:76666388-76666389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189543704	chr16:76666412-76666413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4530164	chr16:76666428-76666429	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181810961	chr16:76666429-76666430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28778981	chr16:76666436-76666437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544301305	chr16:76666513-76666514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561194071	chr16:76666520-76666521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530120005	chr16:76666538-76666539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540253038	chr16:76666567-76666568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567069567	chr16:76666585-76666586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4553656	chr16:76666613-76666614	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139922271	chr16:76666654-76666655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143782217	chr16:76666682-76666683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164919	CNVD
Neuroblastoma	18923524	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76668600-76668800	Enhancers	Pancreas	Pancrea
2	chr16:76668600-76669800	Active TSS	K562	blood
3	chr16:76668800-76669200	Active TSS	Gastric	stomach
4	chr16:76668800-76669200	Flanking Active TSS	Pancreas	Pancrea
5	chr16:76669000-76669400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr16:76669000-76669400	Active TSS	Duodenum Mucosa	Duodenum

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