Variant report

Variant	esv3313791
Chromosome Location	chr16:77217151-77222249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:77217151-77217377	A549	lung:	n/a	n/a
2	CEBPB	chr16:77216988-77217453	A549	lung:	n/a	n/a
3	CTCF	chr16:77221340-77221490	GM12878	blood:	n/a	n/a
4	FOS	chr16:77217006-77217718	MCF10A-Er-Src	breast:	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	FOXA1	chr16:77222011-77222438	HepG2	liver:	n/a	chr16:77222262-77222274
9	FOXA1	chr16:77222039-77222541	HepG2	liver:	n/a	chr16:77222262-77222274
10	JUN	chr16:77217081-77217315	HepG2	liver:	n/a	n/a
11	JUND	chr16:77217042-77217366	HepG2	liver:	n/a	chr16:77217197-77217208
12	KAP1	chr16:77217767-77218404	K562	blood:	n/a	n/a
13	MYC	chr16:77216989-77217342	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr16:77217023-77217373	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:77221433-77221482	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr16:77217824-77217891	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:77219451-77219651	MCF10A-Er-Src	breast:	n/a	n/a
18	RFX5	chr16:77220859-77221111	K562	blood:	n/a	n/a
19	STAT3	chr16:77217127-77217337	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr16:77217130-77217336	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr16:77217088-77217690	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr16:77217022-77217410	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr16:77217105-77217362	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF7L2	chr16:77217081-77217281	PANC-1	pancreas:	n/a	n/a
25	UBTF	chr16:77218014-77218046	K562	blood:	n/a	n/a
26	ZNF274	chr16:77217141-77217288	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:77221668-77221718	T-47D	breast:	n/a
2	chr16:77221668-77221718	U87	brain:	n/a
3	chr16:77221668-77221718	HRPEpiC	eye:	n/a
4	chr16:77221668-77221718	HEK293	kidney:	embryo
5	chr16:77221668-77221718	Jurkat	blood:	n/a
6	chr16:77221668-77221718	NB4	blood:	n/a
7	chr16:77221668-77221718	HUVEC	blood vessel:	n/a
8	chr16:77221668-77221718	ECC-1	luminal epithelium:	n/a
9	chr16:77221668-77221718	HRCEpiC	kidney:	n/a
10	chr16:77221668-77221718	HepG2	liver:	n/a
11	chr16:77221668-77221718	PFSK-1	brain:	n/a
12	chr16:77221668-77221718	HMEC	breast:	n/a
13	chr16:77221668-77221718	Caco-2	colon:	n/a
14	chr16:77221668-77221718	HAEpiC	amniotic membrane:	n/a
15	chr16:77221668-77221718	BJ	skin:	n/a
16	chr16:77221668-77221718	SAEC	small airway:	n/a
17	chr16:77221668-77221718	AG09309	skin:	n/a
18	chr16:77221668-77221718	AG09319	gingival:	n/a
19	chr16:77221668-77221718	GM12891	blood:	n/a
20	chr16:77221668-77221718	HRE	kidney:	n/a
21	chr16:77221668-77221718	HL-60	blood:	n/a
22	chr16:77221668-77221718	SK-N-SH_RA	brain:	n/a
23	chr16:77221668-77221718	NHDF-neo	bronchial:	n/a
24	chr16:77221668-77221718	GM12892	blood:	n/a
25	chr16:77221668-77221718	GM06990	blood:	n/a
26	chr16:77221668-77221718	A549	lung:	n/a
27	chr16:77221668-77221718	CMK	blood:	n/a
28	chr16:77221668-77221718	AG10803	skin:	n/a
29	chr16:77221668-77221718	ProgFib	skin:	n/a
30	chr16:77221668-77221718	Hela-S3	cervix:	n/a
31	chr16:77221668-77221718	MCF-7	breast:	n/a
32	chr16:77221668-77221718	HEEpiC	esophagus:	n/a
33	chr16:77221668-77221718	PANC-1	pancreas:	n/a
34	chr16:77221668-77221718	HNPCEpiC	eye:	n/a
35	chr16:77221668-77221718	HPAEpiC	pulmonary alveolar:	n/a
36	chr16:77221668-77221718	SKMC	muscle:	n/a
37	chr16:77221668-77221718	HCPEpiC	choroid plexus:	n/a
38	chr16:77221668-77221718	ovcar-3	ovarian:	n/a
39	chr16:77221668-77221718	BE2_C	brain:	n/a
40	chr16:77221668-77221718	H1-hESC	embryonic stem cell:	embryo
41	chr16:77221668-77221718	K562	blood:	n/a
42	chr16:77221668-77221718	NHBE	bronchial:	n/a
43	chr16:77221668-77221718	AoSMC	blood vessel:	n/a
44	chr16:77221668-77221718	GM12878	blood:	n/a
45	chr16:77221668-77221718	MCF10A-Er-Src	breast:	n/a
46	chr16:77221668-77221718	HCT-116	colon:	n/a
47	chr16:77221668-77221718	HCF	heart:	n/a
48	chr16:77221668-77221718	LNCaP	prostate:	n/a
49	chr16:77221668-77221718	NT2-D1	testis:	n/a
50	chr16:77221668-77221718	PrEC	prostate:	n/a

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

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

No data

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

Extended variants
information (count: 147 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553305200	chr16:77217183-77217184	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576577578	chr16:77217209-77217210	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9939130	chr16:77217210-77217211	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148716269	chr16:77217267-77217268	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576165836	chr16:77217268-77217269	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541632996	chr16:77217269-77217270	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9939212	chr16:77217270-77217271	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572199123	chr16:77217296-77217297	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564032577	chr16:77217305-77217306	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529729541	chr16:77217321-77217322	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540673980	chr16:77217335-77217336	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9930201	chr16:77217376-77217377	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142457676	chr16:77217388-77217389	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151314802	chr16:77217403-77217404	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181823338	chr16:77217410-77217411	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572872234	chr16:77217483-77217484	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566303671	chr16:77217534-77217535	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528191102	chr16:77217539-77217540	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377388152	chr16:77217558-77217559	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185174502	chr16:77217571-77217572	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188141349	chr16:77217578-77217579	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548342410	chr16:77217579-77217580	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552415707	chr16:77217614-77217615	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562941225	chr16:77217615-77217616	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369520222	chr16:77217616-77217617	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534218705	chr16:77217690-77217691	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535380696	chr16:77217696-77217697	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140558010	chr16:77217705-77217706	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9923489	chr16:77217734-77217735	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs539177248	chr16:77217744-77217745	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555864540	chr16:77217836-77217837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576011582	chr16:77217848-77217849	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145764517	chr16:77217849-77217850	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555266315	chr16:77217859-77217860	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181323965	chr16:77217873-77217874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186187975	chr16:77217892-77217893	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560499872	chr16:77217909-77217910	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146603262	chr16:77217939-77217940	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546184302	chr16:77217962-77217963	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570711692	chr16:77217991-77217992	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563009705	chr16:77218064-77218065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531667624	chr16:77218086-77218087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548811752	chr16:77218087-77218088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191880724	chr16:77218136-77218137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528015546	chr16:77218162-77218163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183305399	chr16:77218174-77218175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570783106	chr16:77218217-77218218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532782523	chr16:77218226-77218227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59374564	chr16:77218284-77218285	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572744725	chr16:77218289-77218290	Inactive region	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:5 , 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
5	chr16:77222000-77223800	Enhancers	HepG2	liver

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