Variant report

Variant	esv17315
Chromosome Location	chr16:76250287-76251108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562883677	chr16:76250330-76250331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537420295	chr16:76250352-76250353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531880523	chr16:76250390-76250391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554122697	chr16:76250431-76250432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16943993	chr16:76250471-76250472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148259053	chr16:76250480-76250481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185282938	chr16:76250482-76250483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574503570	chr16:76250495-76250496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577321861	chr16:76250600-76250601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546093168	chr16:76250648-76250649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377162283	chr16:76250661-76250662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564499689	chr16:76250668-76250669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142808653	chr16:76250682-76250683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576661839	chr16:76250765-76250766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548731308	chr16:76250790-76250791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79589113	chr16:76250825-76250826	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72794923	chr16:76250833-76250834	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546868443	chr16:76250878-76250879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189019260	chr16:76250942-76250943	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77131982	chr16:76250996-76250997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114229314	chr16:76251011-76251012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552108022	chr16:76251037-76251038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536483654	chr16:76251040-76251041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569062148	chr16:76251075-76251076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374769538	chr16:76251082-76251083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147473422	chr16:76251093-76251094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115445366	chr16:76251098-76251099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Lung cancer	24585490	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76241600-76257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76249000-76254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:76249600-76250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:76249800-76250800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:76249800-76257400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:76250800-76251200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:76250800-76252000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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