Variant report

Variant	esv3693229
Chromosome Location	chr16:80904409-80913946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:80907272-80907341	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr16:80913064-80913219	A549	lung:	n/a	chr16:80913123-80913136 chr16:80913123-80913134
3	CEBPB	chr16:80908811-80909220	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr16:80912981-80913285	HepG2	liver:	n/a	chr16:80913123-80913136 chr16:80913123-80913134
5	E2F4	chr16:80911280-80911354	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr16:80908850-80909192	Hela-S3	cervix:	n/a	chr16:80909147-80909157
7	JUN	chr16:80906098-80906237	K562	blood:	n/a	n/a
8	MAFK	chr16:80905188-80905336	HepG2	liver:	n/a	n/a
9	MAFK	chr16:80911753-80911948	HepG2	liver:	n/a	n/a
10	MAZ	chr16:80912517-80912671	HepG2	liver:	n/a	n/a
11	MYC	chr16:80913774-80913871	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:80909800-80909806	Gliobla	brain:	n/a	n/a
13	POLR2A	chr16:80909997-80910021	A549	lung:	n/a	n/a
14	POLR2A	chr16:80909927-80909973	Gliobla	brain:	n/a	n/a
15	POLR2A	chr16:80905546-80905592	Gliobla	brain:	n/a	n/a
16	POLR2A	chr16:80909811-80909836	Gliobla	brain:	n/a	n/a
17	POLR2A	chr16:80913774-80913857	MCF-7	breast:	n/a	n/a
18	POLR2A	chr16:80912404-80912503	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr16:80909844-80909995	A549	lung:	n/a	n/a
20	POLR2A	chr16:80909680-80909781	Gliobla	brain:	n/a	n/a
21	POLR2A	chr16:80911424-80911557	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr16:80907833-80908033	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF7L2	chr16:80909087-80909152	Hela-S3	cervix:	n/a	n/a
24	USF2	chr16:80909916-80909970	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
2	chr16:80910057..80913120-chr16:80916062..80918233,3	MCF-7	breast:
3	chr16:80897559..80901306-chr16:80907284..80910371,3	MCF-7	breast:
4	chr16:80903251..80907289-chr16:80908287..80911628,3	K562	blood:
5	chr16:80905485..80908093-chr16:80908287..80911810,3	K562	blood:
6	chr16:80905485..80908093-chr16:80908287..80911810,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-4	chr16:80904345-80904417	ENSG00000260896.1

No data

Variant related genes	Relation type
ENSG00000260896	TF binding region
ENSG00000260896	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1833973	chr16:80904409-80904410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560373487	chr16:80904416-80904417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs189287732	chr16:80905191-80905192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558743684	chr16:80905216-80905217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182132597	chr16:80905218-80905219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186232739	chr16:80905248-80905249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555921108	chr16:80905255-80905256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs74028808	chr16:80905262-80905263	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190648739	chr16:80905290-80905291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4889211	chr16:80905307-80905308	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182819212	chr16:80905320-80905321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546966490	chr16:80905555-80905556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2580289	chr16:80905575-80905576	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531937825	chr16:80906121-80906122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192710601	chr16:80906149-80906150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183540593	chr16:80906194-80906195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568241369	chr16:80907272-80907273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555099857	chr16:80907274-80907275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576511924	chr16:80907289-80907290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs56165226	chr16:80907318-80907319	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78421056	chr16:80907876-80907877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528294775	chr16:80907950-80907951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs78904513	chr16:80907959-80907960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150579462	chr16:80907977-80907978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189419771	chr16:80907983-80907984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550602373	chr16:80907985-80907986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2549907	chr16:80908013-80908014	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374890148	chr16:80908026-80908027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181778395	chr16:80908029-80908030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12443603	chr16:80908294-80908295	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2580290	chr16:80908312-80908313	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563838296	chr16:80908313-80908314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186800888	chr16:80908330-80908331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191646478	chr16:80908354-80908355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541884273	chr16:80908362-80908363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564188973	chr16:80908399-80908400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373116997	chr16:80908405-80908406	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528232901	chr16:80908410-80908411	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376111160	chr16:80908425-80908426	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546735932	chr16:80908437-80908438	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561816637	chr16:80908449-80908450	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181463173	chr16:80908481-80908482	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371052338	chr16:80908491-80908492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550840301	chr16:80908504-80908505	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373329952	chr16:80908507-80908508	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149239120	chr16:80908518-80908519	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs80200676	chr16:80908564-80908565	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576386270	chr16:80908565-80908566	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79782512	chr16:80908566-80908567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200583112	chr16:80908578-80908579	Enhancers	Chromatin interactive region	1 gene(s)	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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80908400-80909600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:80908600-80909400	Enhancers	Hela-S3	cervix
3	chr16:80908800-80909800	Enhancers	Fetal Lung	lung
4	chr16:80908800-80910200	Enhancers	Pancreas	Pancrea
5	chr16:80909400-80909600	Enhancers	Liver	Liver
6	chr16:80909400-80910800	Weak transcription	Hela-S3	cervix
7	chr16:80909600-80910000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:80909600-80910000	Active TSS	Adipose Nuclei	Adipose
9	chr16:80909600-80910000	Flanking Active TSS	Liver	Liver
10	chr16:80909600-80910000	Active TSS	Duodenum Mucosa	Duodenum
11	chr16:80909600-80910000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr16:80909600-80910000	Enhancers	Right Ventricle	heart
13	chr16:80909600-80910000	Bivalent/Poised TSS	NHDF-Ad	bronchial
14	chr16:80909600-80910200	Enhancers	Gastric	stomach
15	chr16:80909800-80910000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
16	chr16:80909800-80910000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr16:80909800-80910000	Bivalent Enhancer	Small Intestine	intestine
18	chr16:80909800-80910200	Enhancers	Lung	lung
19	chr16:80909800-80910200	Enhancers	Right Atrium	heart
20	chr16:80910000-80910200	Bivalent Enhancer	Aorta	Aorta
21	chr16:80910000-80910200	Bivalent Enhancer	Left Ventricle	heart
22	chr16:80910000-80910400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr16:80910200-80916800	Weak transcription	Gastric	stomach
24	chr16:80910800-80911000	Enhancers	Hela-S3	cervix

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