Variant report

Variant	esv2112956
Chromosome Location	chr16:80871612-80871613
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	BRCA1	chr16:80870805-80872128	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr16:80870107-80872211	Hela-S3	cervix:	n/a	chr16:80871547-80871559
3	CEBPB	chr16:80871438-80871980	MCF-7	breast:	n/a	chr16:80871547-80871559
4	CHD2	chr16:80871088-80872288	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:80871520-80871670	HCT-116	colon:	n/a	n/a
6	ELK4	chr16:80871594-80872092	Hela-S3	cervix:	n/a	n/a
7	EP300	chr16:80870003-80872168	Hela-S3	cervix:	n/a	chr16:80871157-80871170 chr16:80871612-80871626 chr16:80871613-80871627
8	EP300	chr16:80871532-80872001	T-47D	breast:	n/a	chr16:80871612-80871626 chr16:80871613-80871627
9	EP300	chr16:80871473-80872037	MCF-7	breast:	n/a	chr16:80871612-80871626 chr16:80871613-80871627
10	EP300	chr16:80871369-80872250	T-47D	breast:	n/a	chr16:80871612-80871626 chr16:80871613-80871627 chr16:80872229-80872239
11	EP300	chr16:80871419-80872075	MCF-7	breast:	n/a	chr16:80871612-80871626 chr16:80871613-80871627
12	ESR1	chr16:80871375-80872027	T-47D	breast:	n/a	n/a
13	ESR1	chr16:80871469-80871942	T-47D	breast:	n/a	n/a
14	ESR1	chr16:80871367-80871935	T-47D	breast:	n/a	n/a
15	ESR1	chr16:80871433-80872026	T-47D	breast:	n/a	n/a
16	ESR1	chr16:80871371-80871976	T-47D	breast:	n/a	n/a
17	ESR1	chr16:80871304-80872110	T-47D	breast:	n/a	n/a
18	FOXA1	chr16:80871434-80872400	T-47D	breast:	n/a	chr16:80871831-80871843
19	FOXA1	chr16:80871520-80872128	T-47D	breast:	n/a	chr16:80871831-80871843
20	FOXM1	chr16:80871391-80872100	MCF-7	breast:	n/a	n/a
21	GATA3	chr16:80871440-80871974	MCF-7	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
22	GATA3	chr16:80871338-80872266	MCF-7	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
23	GATA3	chr16:80871370-80872257	T-47D	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
24	GATA3	chr16:80871378-80872133	T-47D	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
25	GATA3	chr16:80871274-80872217	MCF-7	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
26	GATA3	chr16:80871475-80871974	MCF-7	breast:	n/a	chr16:80871631-80871640 chr16:80871631-80871638
27	GTF2F1	chr16:80870188-80872239	Hela-S3	cervix:	n/a	n/a
28	JUND	chr16:80871358-80872064	T-47D	breast:	n/a	n/a
29	JUND	chr16:80871383-80872217	T-47D	breast:	n/a	n/a
30	JUND	chr16:80870730-80872067	Hela-S3	cervix:	n/a	n/a
31	KAP1	chr16:80871394-80872141	U2OS	brain:	n/a	n/a
32	MAFK	chr16:80870870-80872111	Hela-S3	cervix:	n/a	chr16:80871504-80871515
33	MAX	chr16:80870740-80872191	Hela-S3	cervix:	n/a	n/a
34	MAX	chr16:80869976-80872277	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr16:80871408-80872226	Hela-S3	cervix:	n/a	n/a
36	MYC	chr16:80870664-80872118	Hela-S3	cervix:	n/a	n/a
37	NFYA	chr16:80871101-80872214	Hela-S3	cervix:	n/a	n/a
38	NFYB	chr16:80871109-80872089	Hela-S3	cervix:	n/a	n/a
39	NR2F2	chr16:80871496-80872102	MCF-7	breast:	n/a	n/a
40	NR2F2	chr16:80871511-80872007	MCF-7	breast:	n/a	n/a
41	POLR2A	chr16:80870845-80872356	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr16:80870345-80872594	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr16:80870644-80872386	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr16:80870801-80872254	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr16:80870755-80872249	Hela-S3	cervix:	n/a	n/a
46	RFX5	chr16:80870847-80872367	Hela-S3	cervix:	n/a	chr16:80871252-80871266
47	SIN3AK20	chr16:80871387-80872260	MCF-7	breast:	n/a	n/a
48	SMC3	chr16:80870876-80872234	Hela-S3	cervix:	n/a	chr16:80871793-80871803
49	STAT1	chr16:80871527-80872280	Hela-S3	cervix:	n/a	chr16:80871539-80871547 chr16:80872029-80872040
50	STAT3	chr16:80870785-80872196	Hela-S3	cervix:	n/a	chr16:80871539-80871547 chr16:80871329-80871337

No.	Distal block	Cell Line	Cell type
1	chr11:68039642..68040173-chr16:80871534..80872505,2	Hela-S3	cervix:
2	chr16:80868740..80871247-chr16:80871583..80874562,3	K562	blood:
3	chr16:80837354..80839278-chr16:80870353..80872624,2	MCF-7	breast:
4	chr16:80871528..80872444-chr6:26056113..26056674,2	Hela-S3	cervix:
5	chr16:80655167..80656068-chr16:80871542..80872135,2	MCF-7	breast:
6	chr16:80868740..80871247-chr16:80871583..80874485,2	K562	blood:

Variant related genes	Relation type
ENSG00000260896	TF binding region
ENSG00000260896	chromatin interactions
ENSG00000166446	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75939081	chr16:80871612-80871613	Enhancers	TF binding region Chromatin interactive region	2 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80870200-80872800	Enhancers	Placenta	Placenta
2	chr16:80870400-80872000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:80870600-80871800	Enhancers	Fetal Intestine Large	intestine
4	chr16:80870800-80872000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr16:80870800-80872200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr16:80871200-80872000	Enhancers	Fetal Kidney	kidney
7	chr16:80871400-80873600	Enhancers	Hela-S3	cervix

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