Variant report

Variant	esv3373781
Chromosome Location	chr16:72613662-72613904
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	FOS	chr16:72613822-72613982	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr16:72613827-72614022	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr16:72613823-72613931	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr16:72613822-72614022	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr16:72613866-72613873	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000221286	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529705475	chr16:72613715-72613716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548246769	chr16:72613736-72613737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187539903	chr16:72613741-72613742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528651786	chr16:72613750-72613751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546812875	chr16:72613793-72613794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192175297	chr16:72613800-72613801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138180297	chr16:72613816-72613817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555762550	chr16:72613820-72613821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557270962	chr16:72613833-72613834	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576626109	chr16:72613834-72613835	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569231318	chr16:72613870-72613871	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10852514	chr16:72613879-72613880	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555029351	chr16:72613893-72613894	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573269684	chr16:72613898-72613899	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72613400-72614400	Enhancers	Placenta	Placenta
2	chr16:72613600-72613800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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