Variant report

Variant	esv3313101
Chromosome Location	chr16:83003976-83004285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12596213	chr16:83003979-83003980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71402042	chr16:83003983-83003984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558393653	chr16:83003988-83003989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554293071	chr16:83004028-83004029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7201138	chr16:83004034-83004035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543331173	chr16:83004045-83004046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563219551	chr16:83004046-83004047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575287805	chr16:83004052-83004053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544262060	chr16:83004074-83004075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6565093	chr16:83004091-83004092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533020817	chr16:83004098-83004099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539957618	chr16:83004129-83004130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560255178	chr16:83004142-83004143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374297367	chr16:83004153-83004154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548863838	chr16:83004165-83004166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369886819	chr16:83004166-83004167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113320551	chr16:83004189-83004190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186757732	chr16:83004212-83004213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541320633	chr16:83004226-83004227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571552515	chr16:83004250-83004251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534257163	chr16:83004255-83004256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7206068	chr16:83004256-83004257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567842713	chr16:83004258-83004259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202058157	chr16:83004270-83004271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536862297	chr16:83004272-83004273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556877559	chr16:83004282-83004283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Autism	22495309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82970800-83021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:82971400-83009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:82976600-83013800	Weak transcription	Aorta	Aorta
4	chr16:82979200-83004600	Weak transcription	Left Ventricle	heart
5	chr16:82985000-83004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82989800-83029600	Weak transcription	HMEC	breast
7	chr16:82995000-83013000	Weak transcription	HSMM	muscle
8	chr16:82995000-83027400	Weak transcription	HSMMtube	muscle
9	chr16:82996000-83008600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:83001400-83013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:83003800-83021400	Weak transcription	NHEK	skin
12	chr16:83004200-83013000	Weak transcription	Muscle Satellite Cultured Cells	--

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