Variant report

Variant	esv3431952
Chromosome Location	chr16:77215901-77221099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:77216988-77217453	A549	lung:	n/a	n/a
2	CEBPB	chr16:77217151-77217377	A549	lung:	n/a	n/a
3	CTCF	chr16:77216190-77216270	MCF-7	breast:	n/a	n/a
4	CTCF	chr16:77216675-77216746	GM13976	blood:	n/a	n/a
5	FOS	chr16:77216954-77217722	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr16:77217023-77217788	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr16:77216953-77217800	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr16:77217006-77217718	MCF10A-Er-Src	breast:	n/a	n/a
9	JUN	chr16:77217081-77217315	HepG2	liver:	n/a	n/a
10	JUND	chr16:77217042-77217366	HepG2	liver:	n/a	chr16:77217197-77217208
11	KAP1	chr16:77217767-77218404	K562	blood:	n/a	n/a
12	MAFK	chr16:77216912-77217109	HepG2	liver:	n/a	n/a
13	MYC	chr16:77217023-77217373	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr16:77216989-77217342	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:77219451-77219651	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr16:77217088-77217106	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:77217824-77217891	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr16:77216024-77216117	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:77216164-77216287	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:77216625-77216743	MCF-7	breast:	n/a	n/a
21	RFX5	chr16:77220859-77221111	K562	blood:	n/a	n/a
22	STAT3	chr16:77217127-77217337	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr16:77217130-77217336	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr16:77217105-77217362	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr16:77217088-77217690	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr16:77217022-77217410	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF7L2	chr16:77217081-77217281	PANC-1	pancreas:	n/a	n/a
28	UBTF	chr16:77218014-77218046	K562	blood:	n/a	n/a
29	ZNF274	chr16:77217141-77217288	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:77219312..77221017-chr16:77223275..77224910,2	K562	blood:
2	chr16:77217047..77218852-chr16:77220836..77222789,2	K562	blood:
3	chr16:77219105..77221826-chr16:77222885..77224694,2	MCF-7	breast:
4	chr16:77216325..77218359-chr16:77222918..77225475,2	MCF-7	breast:
5	chr16:77217047..77218852-chr16:77220836..77222789,2	K562	blood:
6	chr16:77206067..77208430-chr16:77215088..77217473,2	MCF-7	breast:

No data

Variant related genes	Relation type
MON1B	TF binding region
ENSG00000103111	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs371940123	chr16:77216350-77216351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568107112	chr16:77216381-77216382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184082505	chr16:77216422-77216423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531586848	chr16:77216447-77216448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188669476	chr16:77216461-77216462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191493587	chr16:77216498-77216499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530172637	chr16:77216520-77216521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182421475	chr16:77216550-77216551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566935864	chr16:77216561-77216562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186704948	chr16:77216573-77216574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559144713	chr16:77216579-77216580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191953213	chr16:77216587-77216588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534209863	chr16:77216588-77216589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11649440	chr16:77216598-77216599	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs184726363	chr16:77216620-77216621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10781982	chr16:77216669-77216670	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs182168785	chr16:77216687-77216688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190284918	chr16:77216691-77216692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113609529	chr16:77216697-77216698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576489948	chr16:77216706-77216707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545596870	chr16:77216736-77216737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372738290	chr16:77216743-77216744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545997604	chr16:77216761-77216762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552927683	chr16:77216770-77216771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562340981	chr16:77216783-77216784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372220658	chr16:77216795-77216796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375207708	chr16:77216802-77216803	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76568663	chr16:77216821-77216822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs530120189	chr16:77216822-77216823	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546972919	chr16:77216853-77216854	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566971031	chr16:77216910-77216911	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185766791	chr16:77216929-77216930	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147677977	chr16:77217001-77217002	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190240513	chr16:77217003-77217004	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569416691	chr16:77217013-77217014	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28805975	chr16:77217041-77217042	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548883675	chr16:77217060-77217061	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560937519	chr16:77217101-77217102	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533794053	chr16:77217102-77217103	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553305200	chr16:77217183-77217184	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576577578	chr16:77217209-77217210	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9939130	chr16:77217210-77217211	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs148716269	chr16:77217267-77217268	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576165836	chr16:77217268-77217269	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541632996	chr16:77217269-77217270	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9939212	chr16:77217270-77217271	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572199123	chr16:77217296-77217297	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564032577	chr16:77217305-77217306	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529729541	chr16:77217321-77217322	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540673980	chr16:77217335-77217336	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77216800-77217200	Enhancers	NHEK	skin
2	chr16:77217200-77217600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:77217200-77217600	Flanking Active TSS	A549	lung
4	chr16:77217600-77218000	Enhancers	A549	lung

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