Variant report

Variant	esv1805658
Chromosome Location	chr16:12685000-12706436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
3	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
4	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
5	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
6	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
7	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
8	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
9	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
10	CEBPB	chr16:12703999-12704306	HepG2	liver:	n/a	n/a
11	CEBPB	chr16:12705130-12705148	K562	blood:	n/a	n/a
12	CEBPZ	chr16:12704489-12704616	HepG2	liver:	n/a	n/a
13	CTCF	chr16:12698029-12698293	HepG2	liver:	n/a	n/a
14	CTCF	chr16:12704140-12704290	GM12871	blood:	n/a	n/a
15	CTCF	chr16:12698160-12698310	HepG2	liver:	n/a	n/a
16	CTCF	chr16:12698100-12698250	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr16:12698064-12698330	K562	blood:	n/a	n/a
18	CTCF	chr16:12698100-12698250	HepG2	liver:	n/a	n/a
19	CTCF	chr16:12698120-12698270	HEK293	kidney:	n/a	n/a
20	CTCF	chr16:12685636-12685759	GM10248	blood:	n/a	n/a
21	CTCF	chr16:12685640-12685790	HepG2	liver:	n/a	n/a
22	CTCF	chr16:12698065-12698289	K562	blood:	n/a	n/a
23	CTCF	chr16:12685400-12685550	HepG2	liver:	n/a	n/a
24	CUX1	chr16:12706288-12706830	K562	blood:	n/a	n/a
25	ELF1	chr16:12706330-12706795	K562	blood:	n/a	chr16:12706542-12706555
26	ELF1	chr16:12706324-12706726	HepG2	liver:	n/a	chr16:12706542-12706555
27	EP300	chr16:12706409-12706913	MCF-7	breast:	n/a	n/a
28	EP300	chr16:12706301-12708399	A549	lung:	n/a	n/a
29	EP300	chr16:12704918-12705316	K562	blood:	n/a	n/a
30	EP300	chr16:12706243-12708127	A549	lung:	n/a	n/a
31	EP300	chr16:12704459-12704465	HepG2	liver:	n/a	n/a
32	EP300	chr16:12706434-12708296	HepG2	liver:	n/a	n/a
33	EP300	chr16:12703761-12704574	HepG2	liver:	n/a	n/a
34	EP300	chr16:12706229-12708381	HepG2	liver:	n/a	n/a
35	EP300	chr16:12706287-12708137	HepG2	liver:	n/a	n/a
36	EP300	chr16:12706366-12708074	K562	blood:	n/a	n/a
37	FOS	chr16:12704919-12705272	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr16:12706213-12706254	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr16:12704967-12705167	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL1	chr16:12706220-12706940	HCT-116	colon:	n/a	chr16:12706644-12706655
41	FOSL1	chr16:12706291-12708170	HCT-116	colon:	n/a	chr16:12706644-12706655 chr16:12707700-12707711 chr16:12707672-12707683
42	FOSL1	chr16:12706436-12706930	K562	blood:	n/a	chr16:12706644-12706655
43	FOSL2	chr16:12706360-12706874	A549	lung:	n/a	n/a
44	FOSL2	chr16:12706283-12708268	A549	lung:	n/a	n/a
45	FOSL2	chr16:12706315-12708196	HepG2	liver:	n/a	n/a
46	FOSL2	chr16:12706286-12706946	HepG2	liver:	n/a	n/a
47	FOXA1	chr16:12706268-12706893	HepG2	liver:	n/a	n/a
48	FOXA1	chr16:12706252-12708264	HepG2	liver:	n/a	n/a
49	FOXA1	chr16:12703889-12704675	HepG2	liver:	n/a	n/a
50	FOXA1	chr16:12706299-12706926	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:
2	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
3	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
4	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
5	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
6	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-2	chr16:12704595-12704901	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region
ENSG00000259899	chromatin interactions

Extended variants
information (count: 1812 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1812 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11860343	chr16:12685000-12685001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9924362	chr16:12685015-12685016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529200455	chr16:12685019-12685020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563511375	chr16:12685024-12685025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4781278	chr16:12685027-12685028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542665152	chr16:12685050-12685051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560042667	chr16:12685058-12685059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192640938	chr16:12685076-12685077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183972289	chr16:12685081-12685082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371639560	chr16:12685086-12685087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76383672	chr16:12685087-12685088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188472965	chr16:12685105-12685106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550694627	chr16:12685108-12685109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367687859	chr16:12685120-12685121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193047394	chr16:12685144-12685145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184819069	chr16:12685145-12685146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188501047	chr16:12685155-12685156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191764514	chr16:12685157-12685158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538559898	chr16:12685179-12685180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558314093	chr16:12685190-12685191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575123015	chr16:12685203-12685204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36016368	chr16:12685212-12685213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534023745	chr16:12685223-12685224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4781279	chr16:12685238-12685239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557386769	chr16:12685252-12685253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574054023	chr16:12685256-12685257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56007632	chr16:12685260-12685261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146642561	chr16:12685261-12685262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559803490	chr16:12685267-12685268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573564562	chr16:12685270-12685271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545746650	chr16:12685273-12685274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147503839	chr16:12685283-12685284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531172823	chr16:12685324-12685325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556543678	chr16:12685328-12685329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553179905	chr16:12685348-12685349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569791854	chr16:12685349-12685350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529771235	chr16:12685351-12685352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4781280	chr16:12685357-12685358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4781281	chr16:12685384-12685385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188214850	chr16:12685388-12685389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182221339	chr16:12685403-12685404	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs542576685	chr16:12685404-12685405	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs568821217	chr16:12685405-12685406	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs553185538	chr16:12685410-12685411	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs578008747	chr16:12685412-12685413	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs79757915	chr16:12685427-12685428	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs574046151	chr16:12685454-12685455	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs536383147	chr16:12685463-12685464	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs553383522	chr16:12685467-12685468	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs565618987	chr16:12685475-12685476	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12681000-12686400	Enhancers	HepG2	liver
2	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:12683600-12685400	Enhancers	GM12878-XiMat	blood
4	chr16:12684600-12685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr16:12684600-12686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:12685000-12685600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr16:12685000-12685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr16:12685000-12686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:12685000-12686600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:12685200-12685600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:12685200-12685600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:12685200-12685800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr16:12685200-12685800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:12685200-12686000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr16:12685200-12686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12685200-12686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:12685200-12686600	Enhancers	Fetal Thymus	thymus
18	chr16:12685400-12685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr16:12685400-12686600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:12685600-12686000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr16:12685600-12686000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr16:12685600-12686000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr16:12685600-12686200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:12685600-12686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:12685600-12686400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr16:12685600-12686400	Enhancers	Thymus	Thymus
27	chr16:12685600-12686600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:12685800-12686000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:12685800-12686000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:12685800-12686200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:12685800-12686400	Enhancers	Stomach Mucosa	stomach
32	chr16:12686000-12686200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr16:12686000-12686200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr16:12686000-12686200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:12686000-12686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:12686000-12686600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr16:12686200-12686400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr16:12686200-12686400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:12686200-12686600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr16:12686200-12686600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:12686400-12686600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr16:12686400-12686600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr16:12686400-12688000	Weak transcription	HepG2	liver
44	chr16:12688200-12688400	Enhancers	HepG2	liver
45	chr16:12695400-12695600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:12696600-12697200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:12697800-12703800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:12703400-12706400	Enhancers	HepG2	liver
49	chr16:12703400-12706800	Enhancers	Liver	Liver
50	chr16:12703600-12704600	Enhancers	Cortex derived primary cultured neurospheres	brain

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