Variant report

Variant	esv3343026
Chromosome Location	chr16:79856651-79861249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:79857547-79857761	K562	blood:	n/a	n/a
2	BHLHE40	chr16:79858421-79858608	K562	blood:	n/a	n/a
3	CEBPB	chr16:79861048-79861319	A549	lung:	n/a	n/a
4	CEBPB	chr16:79860667-79860837	A549	lung:	n/a	chr16:79860756-79860769 chr16:79860757-79860768 chr16:79860756-79860767
5	CEBPB	chr16:79860624-79861281	K562	blood:	n/a	chr16:79860756-79860769 chr16:79860757-79860768 chr16:79860756-79860767
6	CEBPB	chr16:79860692-79860886	HepG2	liver:	n/a	chr16:79860756-79860769 chr16:79860757-79860768 chr16:79860756-79860767
7	CEBPB	chr16:79861106-79861261	HepG2	liver:	n/a	n/a
8	CTCF	chr16:79861080-79861230	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr16:79860800-79860950	HPF	lung:	n/a	n/a
10	CTCF	chr16:79858500-79858650	HepG2	liver:	n/a	n/a
11	FOXP2	chr16:79861014-79861371	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr16:79861088-79861341	SK-N-MC	brain:	n/a	n/a
13	RCOR1	chr16:79858365-79858648	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79857005..79859687-chr16:79861505..79863503,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAF-3	chr16:79860885-79861047	ENSG00000261082.1

Variant related genes	Relation type
ENSG00000261082	TF binding region

Extended variants
information (count: 271 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147143129	chr16:79856814-79856815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186655161	chr16:79856839-79856840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576565312	chr16:79856864-79856865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373506644	chr16:79856884-79856885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140250440	chr16:79856938-79856939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574340530	chr16:79856960-79856961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535123447	chr16:79856967-79856968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539125733	chr16:79856977-79856978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556615732	chr16:79856995-79856996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539369030	chr16:79857020-79857021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191509473	chr16:79857055-79857056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144329973	chr16:79857057-79857058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150736077	chr16:79857085-79857086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573391388	chr16:79857087-79857088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139085952	chr16:79857106-79857107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562448233	chr16:79857171-79857172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116900011	chr16:79857205-79857206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551023673	chr16:79857208-79857209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562955375	chr16:79857224-79857225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184825820	chr16:79857235-79857236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77299593	chr16:79857241-79857242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541368808	chr16:79857255-79857256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570512299	chr16:79857260-79857261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150043432	chr16:79857271-79857272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377567147	chr16:79857274-79857275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74039236	chr16:79857276-79857277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568369978	chr16:79857294-79857295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373730466	chr16:79857298-79857299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9928839	chr16:79857312-79857313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556501621	chr16:79857331-79857332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574917568	chr16:79857337-79857338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539102835	chr16:79857338-79857339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145345377	chr16:79857350-79857351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543804887	chr16:79857355-79857356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573349354	chr16:79857360-79857361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141467527	chr16:79857411-79857412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563655728	chr16:79857412-79857413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80275607	chr16:79857426-79857427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552636046	chr16:79857427-79857428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559296477	chr16:79857437-79857438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544937472	chr16:79857450-79857451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536433620	chr16:79857453-79857454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374088958	chr16:79857483-79857484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562823546	chr16:79857510-79857511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533374956	chr16:79857555-79857556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545507469	chr16:79857575-79857576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143861217	chr16:79857579-79857580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367997133	chr16:79857591-79857592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528244733	chr16:79857594-79857595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34304569	chr16:79857598-79857599	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79856800-79857600	Enhancers	Fetal Lung	lung
2	chr16:79856800-79857600	Enhancers	Fetal Thymus	thymus
3	chr16:79856800-79857800	Enhancers	Thymus	Thymus
4	chr16:79857200-79857600	Enhancers	Fetal Muscle Leg	muscle
5	chr16:79857200-79857800	Enhancers	NHDF-Ad	bronchial
6	chr16:79857400-79857800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:79857600-79857800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:79857600-79858000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:79857600-79858000	Enhancers	Fetal Stomach	stomach
10	chr16:79857600-79859600	Weak transcription	Fetal Lung	lung
11	chr16:79857600-79860600	Weak transcription	Fetal Muscle Leg	muscle
12	chr16:79858000-79860200	Weak transcription	Fetal Stomach	stomach
13	chr16:79859600-79859800	Enhancers	Fetal Lung	lung
14	chr16:79859800-79860200	Weak transcription	Fetal Lung	lung
15	chr16:79860200-79861600	Enhancers	Fetal Stomach	stomach
16	chr16:79860200-79862000	Enhancers	Fetal Lung	lung
17	chr16:79860600-79861600	Enhancers	Fetal Muscle Leg	muscle
18	chr16:79860800-79861000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:79860800-79861600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:79860800-79861800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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