Variant report

Variant	esv3501359
Chromosome Location	chr16:76168542-76168858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
2	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75829065	chr16:76168547-76168548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8056266	chr16:76168581-76168582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182915412	chr16:76168605-76168606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552380049	chr16:76168610-76168611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187550317	chr16:76168611-76168612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193120700	chr16:76168615-76168616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117841911	chr16:76168628-76168629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184307389	chr16:76168642-76168643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373089211	chr16:76168647-76168648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200074768	chr16:76168649-76168650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530480210	chr16:76168670-76168671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73611456	chr16:76168687-76168688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189304538	chr16:76168730-76168731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567295154	chr16:76168743-76168744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529669955	chr16:76168750-76168751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201230031	chr16:76168752-76168753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201997420	chr16:76168753-76168754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs29863	chr16:76168852-76168853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76158200-76181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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